Sea cucumber Apostichopus japonicus is a crucial aquatic species known for its nutritional value.However,the genetic basis and regulatory mechanisms underlying its nutritional quality remain underexplored.This study i...Sea cucumber Apostichopus japonicus is a crucial aquatic species known for its nutritional value.However,the genetic basis and regulatory mechanisms underlying its nutritional quality remain underexplored.This study investigates the nutritional quality of A.japonicus from different geographical regions and identifies genetic markers associated with these traits through a genome-wide association study(GWAS).We observed significant regional variations in the nutritional content of A.japonicus.Samples collected from Nanhuangcheng Island displayed the highest levels of saponins,whereas those from Laizhou exhibited the highest concentrations of glycosaminoglycans.Lingshan Island samples were the richest in amino acids,while samples from Rizhao contained the highest levels of polyunsaturated fatty acids.Through GWAS,265 candidate genes and related single nucleotide polymorphisms(SNPs)were identified as being significantly associated with essential nutritional traits,including genes like ubiquitin domain-containing protein 1(UBTD1),inactive pancreatic lipase-related protein 1,protein arginine N-methyltransferase 5(PRMT5)and GDP-fucose protein O-fucosyltransferase 1(POFUT1).This study advanced our knowledge of the genetic mechanisms underlying the nutritional quality of A.japonicus.The genetic markers identified herein o ffer crucial insights for breeding initiatives aimed at optimizing the nutritional profile of sea cucumbers.展开更多
Association mapping is a useful tool for the detection of genes selected during plant domestication based on their linkage disequilibrium（LD）. This study was carried out to estimate genetic diversity, population str...Association mapping is a useful tool for the detection of genes selected during plant domestication based on their linkage disequilibrium（LD）. This study was carried out to estimate genetic diversity, population structure and the extent of LD to develop an association framework in order to identify genetic variations associated with drought and salt tolerance traits. 106 microsatellite marker primer pairs were used in 323 Gossypium hirsutum germplasms which were grown in the drought shed and salt pond for evaluation. Polymorphism（PIC=0.53） was found, and three groups were detected（K=3） with the second likelihood ΔK using STRUCTURE software. LD decay rates were estimated to be 13-15 cM at r2 0.20. Significant associations between polymorphic markers and drought and salt tolerance traits were observed using the general linear model（GLM） and mixed linear model（MLM）（P 0.01）. The results also demonstrated that association mapping within the population structure as well as stratification existing in cotton germplasm resources could complement and enhance quantitative trait loci（QTLs） information for marker-assisted selection.展开更多
AIM: To assess the agreement within 3 commonly used symptom-reflux association analysis (SAA) parameters investigating gastroesophageal reflux disease (GERD) in infants. METHODS: Twenty three infants with suspected GE...AIM: To assess the agreement within 3 commonly used symptom-reflux association analysis (SAA) parameters investigating gastroesophageal reflux disease (GERD) in infants. METHODS: Twenty three infants with suspected GERD were included in this study. Symptom index (SI), Symptom sensitivity index (SSI) and symptom association probability (SAP) related to cough and irritability were calculated after 24 h combined pH/multiple intraluminal impedance (MII) monitoring. Through defined cutoff values, SI, SSI and SAP values are differentiated in normal and abnormal, whereas abnormal values point towards gastroesophageal reflux (GER) as the origin of symptoms. We analyzed the correlation and the concordance of the diagnostic classification of these 3 SAA parameters.RESULTS: Evaluating the GER-irritability association, SI, SSI and SAP showed non-identical classification of normal and abnormal cases in 39.2% of the infants. When irritability was taken as a symptom, there was only a poor inter-parameter association between SI and SSI, and between SI and SAP (Kendall’s tau b = 0.37, P < 0.05; Kendall’s tau b = 0.36, P < 0.05, respectively). Evaluating the GER-cough association, SI, SSI and SAP showed non-identical classification of normal and abnormal cases in 52.2% of the patients. When cough was taken as a symptom, only SI and SSI showed a poor inter-parameter association (Kendall’s tau b = 0.33, P < 0.05). CONCLUSION: In infants investigated for suspected GERD with pH/MII-monitoring, SI, SSI and SAP showed a poor inter-parameter association and important dis-agreements in diagnostic classification. These limitations must be taken into consideration when interpreting the results of SAA in infants.展开更多
AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR ...AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus（T2DM）. A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant（rs10946398） of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression（MLR） analysis.· RESULTS： There were significant differences in C allele frequencies of rs10946398（CDKAL1） between control and DR groups（45.06% versus 55.00%, P 〈0.05）.The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION： Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.展开更多
Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were det...Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate （WSC） content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight （TGW） at different grain filling stages and peduncle length （PLE）. Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike （TNSS）were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.展开更多
Seven important grain traits, including grain length（GL）, grain width（GW）, grain perimeter（GP）, grain area（GA）, grain length/width ratio（GLW）, roundness（GR）, and thousand-grain weight（TGW）, were analyzed...Seven important grain traits, including grain length（GL）, grain width（GW）, grain perimeter（GP）, grain area（GA）, grain length/width ratio（GLW）, roundness（GR）, and thousand-grain weight（TGW）, were analyzed using a set of 139 simple sequence repeat（SSR） markers in 130 hexaploid wheat varieties and 193 Aegilops tauschii accessions worldwide. In total, 1 612 alleles in Ae. tauschii and 1 360 alleles in hexaploid wheat（Triticum aestivum L.） were detected throughout the D genome. 197 marker-trait associations in Ae. tauschii were identified with 58 different SSR loci in 3 environments, and the average phenotypic variation value（R2） ranged from 0.68 to 15.12%. In contrast, 208 marker-trait associations were identified in wheat with 66 different SSR markers in 4 environments and the average phenotypic R2 ranged from 0.90 to 19.92%. Further analysis indicated that there are 6 common SSR loci present in both Ae. tauschii and hexaploid wheat, which are significantly associated with the 5 investigated grain traits（i.e., GA, GP, GR, GL, and TGW） and in total, 16 alleles derived from the 6 aforementioned SSR loci were shared by Ae. tauschii and hexaploid wheat. These preliminary data suggest the existence of common alleles may explain the evolutionary process and the selection between Ae. tauschii and hexaploid wheat. Furthermore, the genetic differentiation of grain shape and thousand-grain weight were observed in the evolutionary developmental process from Ae. tauschii to hexaploid wheat.展开更多
A method for mining frequent itemsets by evaluating their probability of supports based on asso-ciation analysis is presented.This paper obtains the probability of every 1-itemset by scanning the database,then evaluat...A method for mining frequent itemsets by evaluating their probability of supports based on asso-ciation analysis is presented.This paper obtains the probability of every 1-itemset by scanning the database,then evaluates the probability of every 2-itemset,every 3-itemset,every k-itemset from the frequent 1-itemsets and gains all the candidate frequent itemsets.This paper also scans the database for verifying the support of the candidate frequent itemsets.Last,the frequent itemsets are mined.The method reduces a lot of time of scanning database and shortens the computation time of the algorithm.展开更多
In this study, we propose to use the principal component analysis （PCA） and regression model to incorporate linkage disequilibrium （LD） in genomic association data analysis. To accommodate LD in genomic data and r...In this study, we propose to use the principal component analysis （PCA） and regression model to incorporate linkage disequilibrium （LD） in genomic association data analysis. To accommodate LD in genomic data and reduce multiple testing, we suggest performing PCA and extracting the PCA score to capture the variation of genomic data, after which regression analysis is used to assess the association of the disease with the principal component score. An empirical analysis result shows that both genotype-based correlation matrix and haplotype-based LD matrix can produce similar results for PCA. Principal component score seems to be more powerful in detecting genetic association because the principal component score is quantitatively measured and may be able to capture the effect of multiple loci.展开更多
The past two decades have witnessed a revolution in identifying genetic risk factors underlying diseases and complex traits using genome-wide association studies （GWAS） （Risch and Merikangas, 1996; Hirschhom and Da...The past two decades have witnessed a revolution in identifying genetic risk factors underlying diseases and complex traits using genome-wide association studies （GWAS） （Risch and Merikangas, 1996; Hirschhom and Daly, 2005; Altshuler et al., 2008）. Together with advanced high-throughput technologies for genotyping and sequencing, GWAS have discovered thousands of susceptibility loci for various traits （Welter et al., 2014）.展开更多
Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abioti...Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat （Triticum aestivum L）. Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms （SNPs） and 1 bp insertion/deletion （InOel） were detected in the promoter regions of different wheat accessions. Nucleotide diversity （T1） in the region was 0.00033, and linkage disequilibrium （LD） extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions （SNP-207 and SNP-1696） were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height （PH）. Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant （NSP）. The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.展开更多
The European black poplar(Populus nigra L.)has been used as a germplasm resource for the breeding of new poplar varieties around the world.The identification and screening of its high nitrogen use efficiency genotypes...The European black poplar(Populus nigra L.)has been used as a germplasm resource for the breeding of new poplar varieties around the world.The identification and screening of its high nitrogen use efficiency genotypes could enable the breeding of new resource-efficient poplar varieties.The accessions were screened using MALDI-TOF MS genotyping technology for ammonium transporter(AMT)and nitrate transporters(NRT)genes against phenotypic data for seedling height and ground diameter traits,in both low and high nitrogen environments.Allele re-sequencing of seven genes related to root development was carried out using the minisequencing method.By cluster analysis,101 accessions of black poplar were divided into 4 populations,and it was concluded that Central Europe is the origin of the evolution of low-nitrogen and high-efficiency populations of European black poplar.Association study between SNP typing and seedling height and ground diameter traits showed that there were significant correlations between four SNP loci and growth traits under the contrasting N levels.We found that SNP3 and SNP4 in the PttAMT1;3 gene were significantly associated with seedling height traits,and that SNP2 and SNP7 in the PttAMT1;2 and PttAMT1;5 genes,respectively,were significantly associated with ground diameter traits.Thus,considerable allelic diversity is present within the candidate genes studied and can be utilized to develop functional markers to select for poplars with improved growth under N stress conditions.展开更多
Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics ...Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics of wheat resistance to this disease, but few on avirulence of the pathogen due mainly to the nature of obligate biotrophism and the lack of systems for studying its genetics and molecular manipulations. To overcome these limitations, a natural Pst population comprising 352 isolates representative of a diverse virulence spectrum was genotyped using 97 secreted protein-single nucleotide polymorphism (SP-SNP) markers to identify candidate avirulence genes using association analysis. Among avirulence genes corresponding to 19 resistance genes, significantly associated SP-SNP markers were detected for avirulence genes AvYr1, AvYr2, AvYr6, AvYr7, AvYr8, AvYr44, AvYrExp2, AvYrSP, and AvYrTye. These results indicate that association analysis can be used to identify markers for avirulence genes. This study has laid the foundation for developing more SP-SNPs for mapping avirulence genes using segregating populations that can be generated through sexual reproduction on alternate hosts of the pathogen.展开更多
Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphis...Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphisms （SNPs） associated with fast chlorophyll fluorescence parameters using more than 560 000 SNPs in a maize panel consisting of 404 inbred lines. In four fidd environments, 41 SNPs were detected to be associated with five fast chlorophyll fluorescence parameters, including ABS/CS0, ET0/CS0, TR0/ABS, ET0/TR0 and Pies. Among these identified SNPs, 8, 6, 18, 4 and 5 were significantly associated with ET0/TR0, ABS/ CS0, TR0/ABS, ET0/CS, and Plcs, respectively. These SNPs will help to discover genes for chlorophyll fluorescence parameters, better understand the genetic basis of photosynthesis, and assist in developing marker-assisted selection breeding programs in maize.展开更多
Objective To investigate relationships of polymorphisms in six genes （ GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b） in the growth hormone （GH）/insulin-like growth factor-1 （IGF-1） axis with idiopathic short st...Objective To investigate relationships of polymorphisms in six genes （ GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b） in the growth hormone （GH）/insulin-like growth factor-1 （IGF-1） axis with idiopathic short stature （ISS） in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms （tagSNPs） from the six genes were selected from the HapMap （haplotype map of the human genome ） Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population （ P 〈 O. 05 ）. For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites （ rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6） of 3 genes （ JAK2, 1GF-1R, and GHR） were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites： 4 sites in JAK2 gene （ rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4） and 1 site in GHR gene （ rsNo. 6）. The risk which affected ISS was found related to the JAK2 gene in 4 sites （ increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ） and to the GHR gene in 1 site （decrease in rsNo. 6）. They were four haplotypes in gene of IGF-1R as ＂TGC＂, ＂CGCT＂, ＂TA＂, and ＂ CA＂, one haplotype in IGFBP-3 as ＂TA＂, and one haplotype in JAK2 as ＂CTG＂, which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference （ P =0. 015）. Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population.展开更多
[ Objective] The objective of this study was to evaluate the genetic diversity and characterization of special maize population consisting of 135 Fl fami- lies. [ Method ] In this study, association analysis was condu...[ Objective] The objective of this study was to evaluate the genetic diversity and characterization of special maize population consisting of 135 Fl fami- lies. [ Method ] In this study, association analysis was conducted in 135 F1 families derived from two maize landraces, and the efficiency of this method was evalua- ted through simulation. [ Result] Association analysis with different kinds of families showed that large population size and robust phenotypic data were required for association mapping. For all the phenotypic traits, the model controlling beth population structure and relative kinship （ Q ＋ K） performed better than the model controlling relative kinship （K）, and similarly to the model controlling population structure （Q）. Across 100 simulation runs in QULINE, the average power of QTL detection for the two models were 88.64% and 83.64% respectively, and the number of false QTL was reduced from 399 with GLM model to 199 with K mod- el. Our simulation results suggested that these F1 families can be used for association analysis, and the power of the QTL detection was related to the maximum al- lele frequency （MAF）and the phenotypic variation （PVE） explained by QTL. [ Conclusion] The results from this study suggest that association analysis using the F1 families is an effective approach to study maize landraces for discovering elite genes which we are interested in from these special populations.展开更多
Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability （Blackburn, 2010）. In most human cells, telomere erosion with each round of cell division eventually l...Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability （Blackburn, 2010）. In most human cells, telomere erosion with each round of cell division eventually limits cell proliferation and tissue renewal, thereby impacting age-dependent pathol- ogies （Lundblad, 2012）. Leukocyte telomere length （LTL） undertakes a slow loss throughout life across human pop- ulations in general （Blackburn, 2010）. Telomerase is a ribo- nucleoprotein that adds telomeric DNA to chromosomal ends and contains two essential components：展开更多
Flowering regulation is important for maize to adapt to a variety of environments as well as associated with high yield.In this study,the genetic mechanism of three flowering traits of 310 maize inbred lines with rich...Flowering regulation is important for maize to adapt to a variety of environments as well as associated with high yield.In this study,the genetic mechanism of three flowering traits of 310 maize inbred lines with rich genetic background was investigated in three years at three different environments such as days to tasseling(DTT),days to silking(DTS)and days to pollen shedding(DTP).Based on mean performance,the longest flowering time was observed in Zhanyi(2018),whereas the shortest in Shizong(2019).The coefficient of variance depicted the range from 3.62%to 9.06%for three flowering traits under all environments.Therefore,we have integrated these flowering traits corresponding to SNP molecular markers for genome-wide association study(GWAS).Results showed that 22 SNPs markers were significantly associated with DTT according to physical position and average linkage disequilibrium(LD)decay distance,and a total of 234 candidate genes were identified near these significantly associated SNP markers.Moreover,KEGG and GO analysis showed that these genes were enriched in the regulation of the physiological pathways for flowering.In more details,16 genes involved in development of floral organs are more worthy of our attention in future studies.展开更多
Dear Editor,Multi-omics association analysis is a key method in crop germplasm research,helping to elucidate the regulatory mechanisms of agronomic traits(Liu et al.,2020;Liang et al.,2021).However,most existing multi...Dear Editor,Multi-omics association analysis is a key method in crop germplasm research,helping to elucidate the regulatory mechanisms of agronomic traits(Liu et al.,2020;Liang et al.,2021).However,most existing multi-omics association studies focus on omics data under a single condition,posing challenges in identifying stress-related agronomically important genes.This difficultymainly arises fromthe increased complexity ofmulti-omics analyseswhen comparing control and stress conditions.展开更多
Background Cotton is a significant crop for fiber production;however,seed shape-related traits have been less investigated in comparison to fiber quality.Comprehending the genetic foundation of traits associated with ...Background Cotton is a significant crop for fiber production;however,seed shape-related traits have been less investigated in comparison to fiber quality.Comprehending the genetic foundation of traits associated with seed shape is crucial for improving the seed and fiber quality in cotton.Results A total of 238 cotton accessions were evaluated in four different environments over a period of two years.Traits including thousand grain weight(TGW),aspect ratio(AR),seed length,seed width,diameter,and roundness demonstrated high heritability and significant genetic variation,as indicated by phenotypic analysis.The association analysis involved 145 simple sequence repeats(SSR)markers and identified 50 loci significantly associated with six traits related to seed shape.The markers MON_DPL0504aa and BNL2535ba were identified as influencing multiple traits,including aspect ratio and thousand grain weight.Notably,markers such as HAU2588a and MUSS422aa had considerable influence on seed diameter and roundness.The identified markers represented an average phenotypic variance between 3.92%for seed length and 16.54%for TGW.Conclusions The research finds key loci for seed shape-related traits in cotton,providing significant potential for marker-assisted breeding.These findings establish a framework for breeding initiatives focused on enhancing seed quality,hence advancing the cotton production.展开更多
Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and f...Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and fine-map the soybean genes associated with resistance to SMV strain SC7.A set of 191 soybean accessions from different geographic origins and 184 recombinant inbred lines（RILs） derived from Kefeng No.1（resistant） Nannong 1138-2（susceptible） were used in this study. The SC7 resistance genes were previously mapped to a 2.65 Mb region on chromosome 2 and a 380 kb region on chromosome 13. Among 19 single nucleotide polymorphisms（SNPs） detected via association analysis in the study, the SNP BARC-021625-04157 was located in the2.65 Mb region, and the SNP BARC-041671-08065 was located near the 380 kb region; three genes harboring the SNPs were probably related to SC7 resistance. The resistance gene associated with BARC-021625-04157 was then finemapped to a region of approximately 158 kb on chromosome2 using 184 RILs. Among the 15 genes within this region, one NBS-LRR type gene, one HSP40 gene and one serine carboxypeptidase-type gene might be candidate SC7 resistance genes. These results will be useful for map-based cloning and marker-assisted selection in soybean breeding programs.展开更多
基金Supported by the Key Research and Development Program of Shandong(Nos.2021LZGC029,2023LZGC019)the National Natural Science Foundation of China(No.42076093)+1 种基金the Special Funds for the Central Government to Guide Local Science and Technology Development(No.YDZX2023043)the Taishan Scholars Program(No.tsqn202306279)。
文摘Sea cucumber Apostichopus japonicus is a crucial aquatic species known for its nutritional value.However,the genetic basis and regulatory mechanisms underlying its nutritional quality remain underexplored.This study investigates the nutritional quality of A.japonicus from different geographical regions and identifies genetic markers associated with these traits through a genome-wide association study(GWAS).We observed significant regional variations in the nutritional content of A.japonicus.Samples collected from Nanhuangcheng Island displayed the highest levels of saponins,whereas those from Laizhou exhibited the highest concentrations of glycosaminoglycans.Lingshan Island samples were the richest in amino acids,while samples from Rizhao contained the highest levels of polyunsaturated fatty acids.Through GWAS,265 candidate genes and related single nucleotide polymorphisms(SNPs)were identified as being significantly associated with essential nutritional traits,including genes like ubiquitin domain-containing protein 1(UBTD1),inactive pancreatic lipase-related protein 1,protein arginine N-methyltransferase 5(PRMT5)and GDP-fucose protein O-fucosyltransferase 1(POFUT1).This study advanced our knowledge of the genetic mechanisms underlying the nutritional quality of A.japonicus.The genetic markers identified herein o ffer crucial insights for breeding initiatives aimed at optimizing the nutritional profile of sea cucumbers.
基金supported by the National Natural Science Foundation of China(31201246)the Project of International Science and Technology Cooperation and Exchange from the Ministry of Science and Technology,China(2010DFR30620-3)
文摘Association mapping is a useful tool for the detection of genes selected during plant domestication based on their linkage disequilibrium（LD）. This study was carried out to estimate genetic diversity, population structure and the extent of LD to develop an association framework in order to identify genetic variations associated with drought and salt tolerance traits. 106 microsatellite marker primer pairs were used in 323 Gossypium hirsutum germplasms which were grown in the drought shed and salt pond for evaluation. Polymorphism（PIC=0.53） was found, and three groups were detected（K=3） with the second likelihood ΔK using STRUCTURE software. LD decay rates were estimated to be 13-15 cM at r2 0.20. Significant associations between polymorphic markers and drought and salt tolerance traits were observed using the general linear model（GLM） and mixed linear model（MLM）（P 0.01）. The results also demonstrated that association mapping within the population structure as well as stratification existing in cotton germplasm resources could complement and enhance quantitative trait loci（QTLs） information for marker-assisted selection.
文摘AIM: To assess the agreement within 3 commonly used symptom-reflux association analysis (SAA) parameters investigating gastroesophageal reflux disease (GERD) in infants. METHODS: Twenty three infants with suspected GERD were included in this study. Symptom index (SI), Symptom sensitivity index (SSI) and symptom association probability (SAP) related to cough and irritability were calculated after 24 h combined pH/multiple intraluminal impedance (MII) monitoring. Through defined cutoff values, SI, SSI and SAP values are differentiated in normal and abnormal, whereas abnormal values point towards gastroesophageal reflux (GER) as the origin of symptoms. We analyzed the correlation and the concordance of the diagnostic classification of these 3 SAA parameters.RESULTS: Evaluating the GER-irritability association, SI, SSI and SAP showed non-identical classification of normal and abnormal cases in 39.2% of the infants. When irritability was taken as a symptom, there was only a poor inter-parameter association between SI and SSI, and between SI and SAP (Kendall’s tau b = 0.37, P < 0.05; Kendall’s tau b = 0.36, P < 0.05, respectively). Evaluating the GER-cough association, SI, SSI and SAP showed non-identical classification of normal and abnormal cases in 52.2% of the patients. When cough was taken as a symptom, only SI and SSI showed a poor inter-parameter association (Kendall’s tau b = 0.33, P < 0.05). CONCLUSION: In infants investigated for suspected GERD with pH/MII-monitoring, SI, SSI and SAP showed a poor inter-parameter association and important dis-agreements in diagnostic classification. These limitations must be taken into consideration when interpreting the results of SAA in infants.
基金Supported by National Natural Science Foundation of China(No.81270903)Science and Technology Commission of Shanghai Municipality(No.13140901600)
文摘AIM： To identify the contribution of CDKAL1 to the development of diabetic retinopathy（DR） in Chinese population.·METHODS： A case-control study was performed to investigate the genetic association between DR and polymorphic variants of CDKAL1 in Chinese Han population with type 2 diabetes mellitus（T2DM）. A welldefined population with T2 DM, consisting of 475 controls and 105 DR patients, was recruited. All subjects were genotyped for the genetic variant（rs10946398） of CDKAL1. Genotyping was performed by i PLEX technology. The association between rs10946398 and T2 DM was assessed by univariate and multivariate logistic regression（MLR） analysis.· RESULTS： There were significant differences in C allele frequencies of rs10946398（CDKAL1） between control and DR groups（45.06% versus 55.00%, P 〈0.05）.The rs10946398 of CDKAL1 was found to be associated with the increased risk of DR among patients with diabetes.·CONCLUSION： Our findings suggest that rs10946398 of CDKAL1 is independently associated with DR in a Chinese Han population.
基金supported by the National Natural Science Foundation of China(31461143024)the National Major Project for Developing New Genetically Modified(GM) Crops of China(2016ZX08010005)the Agricultural Science and Technology Innovation Program,China(ASTIP)
文摘Fructans are major nonstructural carbohydrates in wheat （Triticum aestivum L.）. Fructan 1-fructosyltransferase （1-FFT） is the key enzyme in fructan biosynthesis. In the present study, 96 sequence variants were detected in the 1-FFT-A 1 gene among 26 wheat accessions including UR208, and 15 of them result in amino acid substitutions, forming four haplotypes. Two markers M39 and M2164 were developed based on the InDe121-39 and SNP-2164 polymorphisms to distinguish the three haplotypes in the 1-FFT-AI. 1-FFT-A1 was located on chromosome 4A using marker M2164 and was flanked by markers Xcwm27 and 6-SFT-A 1. By association analysis using a natural wheat population consisted of 154 accessions, the results showed that the two markers were significantly associated with water-soluble carbohydrate （WSC） content in the lower internode stem and total stem at the early and middle grain filling stages, 1 000-grain weight （TGW） at different grain filling stages and peduncle length （PLE）. Comparison of the effects of three haplotypes on agronomic traits indicated that TGW, PLE and total number of spikelets per spike （TNSS）were significantly influenced by haplotypes. Haplll showed a significant positive effect on TGW, PLE and TNSS.
基金financial supports by the National 973 Program of China (2014CB138100)the National Natural Science Foundation of China (31171553, 31471488 and 31200982)the National High-Tech R&D Program of China (2011AA100102)
文摘Seven important grain traits, including grain length（GL）, grain width（GW）, grain perimeter（GP）, grain area（GA）, grain length/width ratio（GLW）, roundness（GR）, and thousand-grain weight（TGW）, were analyzed using a set of 139 simple sequence repeat（SSR） markers in 130 hexaploid wheat varieties and 193 Aegilops tauschii accessions worldwide. In total, 1 612 alleles in Ae. tauschii and 1 360 alleles in hexaploid wheat（Triticum aestivum L.） were detected throughout the D genome. 197 marker-trait associations in Ae. tauschii were identified with 58 different SSR loci in 3 environments, and the average phenotypic variation value（R2） ranged from 0.68 to 15.12%. In contrast, 208 marker-trait associations were identified in wheat with 66 different SSR markers in 4 environments and the average phenotypic R2 ranged from 0.90 to 19.92%. Further analysis indicated that there are 6 common SSR loci present in both Ae. tauschii and hexaploid wheat, which are significantly associated with the 5 investigated grain traits（i.e., GA, GP, GR, GL, and TGW） and in total, 16 alleles derived from the 6 aforementioned SSR loci were shared by Ae. tauschii and hexaploid wheat. These preliminary data suggest the existence of common alleles may explain the evolutionary process and the selection between Ae. tauschii and hexaploid wheat. Furthermore, the genetic differentiation of grain shape and thousand-grain weight were observed in the evolutionary developmental process from Ae. tauschii to hexaploid wheat.
基金Funded by the National 973 Project(No.2003CB415205).
文摘A method for mining frequent itemsets by evaluating their probability of supports based on asso-ciation analysis is presented.This paper obtains the probability of every 1-itemset by scanning the database,then evaluates the probability of every 2-itemset,every 3-itemset,every k-itemset from the frequent 1-itemsets and gains all the candidate frequent itemsets.This paper also scans the database for verifying the support of the candidate frequent itemsets.Last,the frequent itemsets are mined.The method reduces a lot of time of scanning database and shortens the computation time of the algorithm.
文摘In this study, we propose to use the principal component analysis （PCA） and regression model to incorporate linkage disequilibrium （LD） in genomic association data analysis. To accommodate LD in genomic data and reduce multiple testing, we suggest performing PCA and extracting the PCA score to capture the variation of genomic data, after which regression analysis is used to assess the association of the disease with the principal component score. An empirical analysis result shows that both genotype-based correlation matrix and haplotype-based LD matrix can produce similar results for PCA. Principal component score seems to be more powerful in detecting genetic association because the principal component score is quantitatively measured and may be able to capture the effect of multiple loci.
基金supported by the Fundamental Research Funds for the Central Universities (BLX2013026)the National Natural Science Foundation of China (No. 31470675)+2 种基金the National Institutes of Health (K01AA023321)supported by the National Heart, Lung, and Blood Institute in collaboration with Boston University (Contract No. N01-HC-25195)Funding for SHARe Affymetrix genotyping was provided by NHLBI Contract N02-HL-64278
文摘The past two decades have witnessed a revolution in identifying genetic risk factors underlying diseases and complex traits using genome-wide association studies （GWAS） （Risch and Merikangas, 1996; Hirschhom and Daly, 2005; Altshuler et al., 2008）. Together with advanced high-throughput technologies for genotyping and sequencing, GWAS have discovered thousands of susceptibility loci for various traits （Welter et al., 2014）.
基金supported by the National High-Tech R&D Program of China (2011AA100501)the National Natural Science Foundation of China (31461143024)the Agricultural Science and Technology Innovation Program (ASTIP), Chinese Academy of Agricultural Sciences
文摘Lipid transfer protein （LTP） is a kind of small molecular protein, which is named for its ability to transfer lipid between cell membranes. It has been proved that the protein is involved in the responding to abiotic stresses. In this study, TaLTP-s, a genomic sequence of TaLTP was isolated from A genome of wheat （Triticum aestivum L）. Sequencing analysis exhibited that there was no diversity in the coding region of TaLTP-s, but seven single nucleotide polymorphisms （SNPs） and 1 bp insertion/deletion （InOel） were detected in the promoter regions of different wheat accessions. Nucleotide diversity （T1） in the region was 0.00033, and linkage disequilibrium （LD） extended over almost the entire TaLTP-s region in wheat. The dCAPS markers based on sequence variations in the promoter regions （SNP-207 and SNP-1696） were developed, and three haplotypes were identified based on those markers. Association analysis between the haplotypes and agronomic traits of natural population consisted of 262 accessions showed that three haplotypes of TaLTP-s were significantly associated with plant height （PH）. Among the three haplotypes, Haplll is considered as the superior haplotype for increasing plant height in the drought stress environments. The G variance at the position of 207 bp could be a superior allele that significantly increased number of spikes per plant （NSP）. The functional marker of TaLTP-s provide a tool for marker-assisted selection regarding to plant height and number of spikelet per plant in wheat.
基金This study was financially supported by the national key research and development program of China(Grant No.2016YFD060040)the National Natural Science Foundation of China(31870662)the Natural Science Foundation of key University of Fujian Province(JZ160477).
文摘The European black poplar(Populus nigra L.)has been used as a germplasm resource for the breeding of new poplar varieties around the world.The identification and screening of its high nitrogen use efficiency genotypes could enable the breeding of new resource-efficient poplar varieties.The accessions were screened using MALDI-TOF MS genotyping technology for ammonium transporter(AMT)and nitrate transporters(NRT)genes against phenotypic data for seedling height and ground diameter traits,in both low and high nitrogen environments.Allele re-sequencing of seven genes related to root development was carried out using the minisequencing method.By cluster analysis,101 accessions of black poplar were divided into 4 populations,and it was concluded that Central Europe is the origin of the evolution of low-nitrogen and high-efficiency populations of European black poplar.Association study between SNP typing and seedling height and ground diameter traits showed that there were significant correlations between four SNP loci and growth traits under the contrasting N levels.We found that SNP3 and SNP4 in the PttAMT1;3 gene were significantly associated with seedling height traits,and that SNP2 and SNP7 in the PttAMT1;2 and PttAMT1;5 genes,respectively,were significantly associated with ground diameter traits.Thus,considerable allelic diversity is present within the candidate genes studied and can be utilized to develop functional markers to select for poplars with improved growth under N stress conditions.
文摘Puccinia striiformis f. sp. tritici (Pst) is one of the pathogenic fungi on wheat, caused stripe rust that is a great threat for wheat production all over the world. Intensive efforts have been made to study genetics of wheat resistance to this disease, but few on avirulence of the pathogen due mainly to the nature of obligate biotrophism and the lack of systems for studying its genetics and molecular manipulations. To overcome these limitations, a natural Pst population comprising 352 isolates representative of a diverse virulence spectrum was genotyped using 97 secreted protein-single nucleotide polymorphism (SP-SNP) markers to identify candidate avirulence genes using association analysis. Among avirulence genes corresponding to 19 resistance genes, significantly associated SP-SNP markers were detected for avirulence genes AvYr1, AvYr2, AvYr6, AvYr7, AvYr8, AvYr44, AvYrExp2, AvYrSP, and AvYrTye. These results indicate that association analysis can be used to identify markers for avirulence genes. This study has laid the foundation for developing more SP-SNPs for mapping avirulence genes using segregating populations that can be generated through sexual reproduction on alternate hosts of the pathogen.
基金Supported by Natural Science Foundation of Jiangsu Province(BK20141272)National Natural Science Foundation of China(31571669,91535106)+2 种基金Prospective Joint Project of Industry-University-Research Institute Corporation of Jiangsu Province(BY2016069-09)Key Agricultural Science and Technology Research and Development Program of Jiangsu Province(BE2014353)the Priority Academic Program Development of Jiangsu Higher Education Institutions(PAPD)
文摘Fast chlorophyll fluorescence parameters are widely used to characterize the photosynthetic efficiency of plants. In this study, a genome-wide association analysis was used to detect key single-nueleotide polymorphisms （SNPs） associated with fast chlorophyll fluorescence parameters using more than 560 000 SNPs in a maize panel consisting of 404 inbred lines. In four fidd environments, 41 SNPs were detected to be associated with five fast chlorophyll fluorescence parameters, including ABS/CS0, ET0/CS0, TR0/ABS, ET0/TR0 and Pies. Among these identified SNPs, 8, 6, 18, 4 and 5 were significantly associated with ET0/TR0, ABS/ CS0, TR0/ABS, ET0/CS, and Plcs, respectively. These SNPs will help to discover genes for chlorophyll fluorescence parameters, better understand the genetic basis of photosynthesis, and assist in developing marker-assisted selection breeding programs in maize.
基金Supported by National Natural Science Foundation of China(30771029)
文摘Objective To investigate relationships of polymorphisms in six genes （ GHR, IGF-1, IGF-1R, IGFBP-3, JAK2, and STAT5b） in the growth hormone （GH）/insulin-like growth factor-1 （IGF-1） axis with idiopathic short stature （ISS） in the Chinese Han population. Methods A case- control study was carried out on a cohort of 198 ISS patients and 306 healthy controls. A total of 106 tagging single nucleotide polymorphisms （tagSNPs） from the six genes were selected from the HapMap （haplotype map of the human genome ） Han Chinese in the Beijing subset. Results of genotyping conducted by high- throughput lllumina GoldenGateTM Assay were analyzed by statistical software. Results Both individual tagSNPs and haplotypes showed an association with 1SS in the Han Chinese population （ P 〈 O. 05 ）. For each single test, both allele and genotype were tested. By allele frequency analysis, six positive SNP sites （ rsNo. 1, rsNo. 2, rsNo. 3, rsNo. 4, rsNo. 5, and rsNo. 6） of 3 genes （ JAK2, 1GF-1R, and GHR） were found having associations with ISS. By genotype frequency analysis, there were significant differences between the patient and control groups in the following SNP sites： 4 sites in JAK2 gene （ rsNo. 1, rsNo. 2, rsNo. 3, and rsNo. 4） and 1 site in GHR gene （ rsNo. 6）. The risk which affected ISS was found related to the JAK2 gene in 4 sites （ increase in rsNo. 1 and decrease in rsNo. 2, rsNo. 3, and rsNo. 4 ） and to the GHR gene in 1 site （decrease in rsNo. 6）. They were four haplotypes in gene of IGF-1R as ＂TGC＂, ＂CGCT＂, ＂TA＂, and ＂ CA＂, one haplotype in IGFBP-3 as ＂TA＂, and one haplotype in JAK2 as ＂CTG＂, which revealed high significance for risks of affecting ISS. At last, multivariate logistic regression analysis of specific site rsNo. 6 of the GHR gene revealed that the serum IGF-1 was related to genotypes AA and AC, with genotype CC as the reference （ P =0. 015）. Conclusion Genetic variances in six genes within the GH/IGF-1 axis may be important etiological factors for ISS in the Chinese Han population.
基金Surpported by the Key Program of Department of Education of Sichuan Province,China(12ZB097)
文摘[ Objective] The objective of this study was to evaluate the genetic diversity and characterization of special maize population consisting of 135 Fl fami- lies. [ Method ] In this study, association analysis was conducted in 135 F1 families derived from two maize landraces, and the efficiency of this method was evalua- ted through simulation. [ Result] Association analysis with different kinds of families showed that large population size and robust phenotypic data were required for association mapping. For all the phenotypic traits, the model controlling beth population structure and relative kinship （ Q ＋ K） performed better than the model controlling relative kinship （K）, and similarly to the model controlling population structure （Q）. Across 100 simulation runs in QULINE, the average power of QTL detection for the two models were 88.64% and 83.64% respectively, and the number of false QTL was reduced from 399 with GLM model to 199 with K mod- el. Our simulation results suggested that these F1 families can be used for association analysis, and the power of the QTL detection was related to the maximum al- lele frequency （MAF）and the phenotypic variation （PVE） explained by QTL. [ Conclusion] The results from this study suggest that association analysis using the F1 families is an effective approach to study maize landraces for discovering elite genes which we are interested in from these special populations.
基金supported by the grants from the National Basic Research Program of China(No.2011CB504000)the National Key Technology R&D Program(No.2012BAI01B09)+1 种基金the Wu Jieping Medical Foundation(No.320.67001118)the National Natural Science Foundation of China(No.81121001)
文摘Telomeres are protein--DNA complex structure at the ends of chromosomes, which are involved in genomic stability （Blackburn, 2010）. In most human cells, telomere erosion with each round of cell division eventually limits cell proliferation and tissue renewal, thereby impacting age-dependent pathol- ogies （Lundblad, 2012）. Leukocyte telomere length （LTL） undertakes a slow loss throughout life across human pop- ulations in general （Blackburn, 2010）. Telomerase is a ribo- nucleoprotein that adds telomeric DNA to chromosomal ends and contains two essential components：
基金Sichuan Science and Technology Support Project(2016NYZ-0049,2016NZ0103).
文摘Flowering regulation is important for maize to adapt to a variety of environments as well as associated with high yield.In this study,the genetic mechanism of three flowering traits of 310 maize inbred lines with rich genetic background was investigated in three years at three different environments such as days to tasseling(DTT),days to silking(DTS)and days to pollen shedding(DTP).Based on mean performance,the longest flowering time was observed in Zhanyi(2018),whereas the shortest in Shizong(2019).The coefficient of variance depicted the range from 3.62%to 9.06%for three flowering traits under all environments.Therefore,we have integrated these flowering traits corresponding to SNP molecular markers for genome-wide association study(GWAS).Results showed that 22 SNPs markers were significantly associated with DTT according to physical position and average linkage disequilibrium(LD)decay distance,and a total of 234 candidate genes were identified near these significantly associated SNP markers.Moreover,KEGG and GO analysis showed that these genes were enriched in the regulation of the physiological pathways for flowering.In more details,16 genes involved in development of floral organs are more worthy of our attention in future studies.
基金supported by the Biological Breeding-Major Projects(2023ZD04076)the Pinduoduo-China Agricultural University Research Fund(PC2023B01012)+1 种基金the 2115 Talent Development Program of China Agricultural University,the National Natural Science Foundation of China(32201718)the Science and Technology Demonstration Project of Shandong Province(2024SFGC0402).
文摘Dear Editor,Multi-omics association analysis is a key method in crop germplasm research,helping to elucidate the regulatory mechanisms of agronomic traits(Liu et al.,2020;Liang et al.,2021).However,most existing multi-omics association studies focus on omics data under a single condition,posing challenges in identifying stress-related agronomically important genes.This difficultymainly arises fromthe increased complexity ofmulti-omics analyseswhen comparing control and stress conditions.
基金supported by the Fund for BTNYGG(NYHXGG,2023AA102)the National Natural Science Foundation of China(32260510)+3 种基金the Key Project for Science,Technology Development of Shihezi city,Xinjiang Production and Construction Crops(2022NY01)Shihezi University high-level talent research project(RCZK202337)Science and Technology Major Project of the Department of Science and Technology of Xinjiang Uygur Autonomous region(2022A03004-1)the Key Programs for Science and Technology Development in Agricultural Field of Xinjiang Production and Construction Corps。
文摘Background Cotton is a significant crop for fiber production;however,seed shape-related traits have been less investigated in comparison to fiber quality.Comprehending the genetic foundation of traits associated with seed shape is crucial for improving the seed and fiber quality in cotton.Results A total of 238 cotton accessions were evaluated in four different environments over a period of two years.Traits including thousand grain weight(TGW),aspect ratio(AR),seed length,seed width,diameter,and roundness demonstrated high heritability and significant genetic variation,as indicated by phenotypic analysis.The association analysis involved 145 simple sequence repeats(SSR)markers and identified 50 loci significantly associated with six traits related to seed shape.The markers MON_DPL0504aa and BNL2535ba were identified as influencing multiple traits,including aspect ratio and thousand grain weight.Notably,markers such as HAU2588a and MUSS422aa had considerable influence on seed diameter and roundness.The identified markers represented an average phenotypic variance between 3.92%for seed length and 16.54%for TGW.Conclusions The research finds key loci for seed shape-related traits in cotton,providing significant potential for marker-assisted breeding.These findings establish a framework for breeding initiatives focused on enhancing seed quality,hence advancing the cotton production.
基金supported in part by the National Basic Research Program of China(973 Program)(2010CB125906)the National Natural Science Foundation of China(31171573,31301342,31370034)+2 种基金the Jiangsu Provincial Support Program(BE2012328)the Program for Changjiang Scholarsthe Innovative Research Team in University(PCSIRT13073)
文摘Soybean mosaic virus（SMV） disease is one of the most serious and broadly distributed soybean（Glycine max（L.） Merr.） diseases. Here, we combine the advantages of association and linkage analysis to identify and fine-map the soybean genes associated with resistance to SMV strain SC7.A set of 191 soybean accessions from different geographic origins and 184 recombinant inbred lines（RILs） derived from Kefeng No.1（resistant） Nannong 1138-2（susceptible） were used in this study. The SC7 resistance genes were previously mapped to a 2.65 Mb region on chromosome 2 and a 380 kb region on chromosome 13. Among 19 single nucleotide polymorphisms（SNPs） detected via association analysis in the study, the SNP BARC-021625-04157 was located in the2.65 Mb region, and the SNP BARC-041671-08065 was located near the 380 kb region; three genes harboring the SNPs were probably related to SC7 resistance. The resistance gene associated with BARC-021625-04157 was then finemapped to a region of approximately 158 kb on chromosome2 using 184 RILs. Among the 15 genes within this region, one NBS-LRR type gene, one HSP40 gene and one serine carboxypeptidase-type gene might be candidate SC7 resistance genes. These results will be useful for map-based cloning and marker-assisted selection in soybean breeding programs.
