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基于GWAS与转录组分析筛选黄鳍棘鲷生长相关SNP及候选基因
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作者 刘波 白璐鑫 +2 位作者 卢友军 吴兵 刘贤德 《海洋与湖沼》 北大核心 2026年第1期199-211,共13页
黄鳍棘鲷是我国东南沿海重要的海水养殖鱼类之一。为探究黄鳍棘鲷生长差异的遗传基础,对344尾黄鳍棘鲷进行全基因组关联分析(GWAS),共鉴定出113个与生长显著相关的SNP位点,对这些位点上下游50 kb范围的基因进行功能注释,共筛选出33个与... 黄鳍棘鲷是我国东南沿海重要的海水养殖鱼类之一。为探究黄鳍棘鲷生长差异的遗传基础,对344尾黄鳍棘鲷进行全基因组关联分析(GWAS),共鉴定出113个与生长显著相关的SNP位点,对这些位点上下游50 kb范围的基因进行功能注释,共筛选出33个与黄鳍棘鲷生长性状相关基因。为进一步探究生长差异的分子机制,从344尾黄鳍棘鲷中挑选体质量最大的9尾作为生长快速个体,体质量最小的9尾作为生长缓慢个体,对18尾生长差异极端个体进行转录组分析,以|log2Fold Change|≥2为筛选标准,共得到差异表达基因461个,功能分析鉴定到9个信号通路和32个基因与生长相关。通过比较全基因组关联分析和转录组分析结果,筛选到4个与生长均显著相关的基因,分别为asb15a、LOC119025107、socs3a和mylz3。研究结果为解析黄鳍棘鲷生长差异的遗传基础提供了重要数据,并为后续黄鳍棘鲷速生品系的培育提供参考。 展开更多
关键词 黄鳍棘鲷(Acanthopagrus latus) 生长性状 gwas 转录组 候选基因
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玉米雄穗相关性状的GWAS分析及候选基因预测
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作者 柳赫轩 李春翔 +6 位作者 周于阳 王佳浩 张慧兰 周羽 张林 王振华 邸宏 《玉米科学》 北大核心 2026年第1期17-23,共7页
以214份玉米自交系构成的自然群体为试验材料,调查雄穗分枝数、一级侧枝数目、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度、分枝与主轴角度等雄穗相关性状,结合41101个SNPs基因型数据进行全基因组关联分析(GWAS)。结果表... 以214份玉米自交系构成的自然群体为试验材料,调查雄穗分枝数、一级侧枝数目、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度、分枝与主轴角度等雄穗相关性状,结合41101个SNPs基因型数据进行全基因组关联分析(GWAS)。结果表明,参试材料在6个性状间差异显著,表现出数量性状特点,性状间显著相关(P<0.05)。检测出与雄穗分枝数、主轴长、最高位侧枝以上主轴长度、最低位侧枝以上主轴长度性状显著相关的15个SNP位点,预测到13个候选基因,其中10个基因有功能注释。筛选出3个重要的候选基因,包括Zm00001d019875、Zm00001d023945和Zm00001d023950,可能通过信号转导、蛋白质的折叠与降解、氨基酸代谢、糖生物合成与代谢、脂质代谢等途径影响玉米雄穗结构。 展开更多
关键词 玉米 雄穗相关性状 全基因组关联分析 候选基因预测
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基于GWAS的中国地方小麦成熟胚大小位点的鉴定及其遗传效应解析
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作者 叶美金 吴雷 +11 位作者 Lohani Md Nahibuzzaman 尹丽 胡欣荣 刘亚西 蒋云峰 陈国跃 蒲至恩 李阳 李婷 邹亚亚 吴佳怡 马建 《中国农业科学》 北大核心 2026年第6期1157-1171,共15页
【目的】小麦胚是籽粒的重要组成部分,与种子的营养价值、萌发和幼苗建成密切相关。从遗传变异丰富的中国地方小麦中挖掘胚大小位点,并解析其遗传效应,拓展对小麦胚大小遗传基础的认识,为未来育种计划提供有价值的分子靶点。【方法】利... 【目的】小麦胚是籽粒的重要组成部分,与种子的营养价值、萌发和幼苗建成密切相关。从遗传变异丰富的中国地方小麦中挖掘胚大小位点,并解析其遗传效应,拓展对小麦胚大小遗传基础的认识,为未来育种计划提供有价值的分子靶点。【方法】利用小麦660K SNP芯片对240份不同来源的中国地方小麦进行基因型分析,并结合3个环境的胚大小表型数据,通过混合线性模型进行全基因组关联分析,对检测到的显著性关联位点进行遗传效应分析和候选基因预测。【结果】在3个环境及最佳线性无偏预测值(BLUP)下,胚长、胚宽、胚面积、胚长宽比的范围分别为1.64—3.43 mm、0.93—2.58 mm、1.10—5.71 mm^(2)和1.06—2.08,其广义遗传力分别为0.76、0.47、0.54和0.60。胚长、胚宽、胚面积、胚长宽比、胚长粒长比和胚宽粒宽比之间存在显著的正相关性,相关系数为0.271—0.922。主要胚性状(胚长、胚宽、胚面积)与粒长、千粒重、根干重呈显著正相关。共鉴定到18个在2个环境及BLUP中稳定表达的、与胚长和胚面积显著关联的SNP位点,这些位点被分为4个QTL区段,其中,控制胚长的有3个、控制胚面积的有1个,且胚面积QTL(QEA.sicau.3B)与胚长QTL(QEL.sicau.3B.2)共定位。针对主效胚长位点QEL.sicau.1B,预测了9个候选基因。遗传效应分析表明,QEL.sicau.1B的增效应位点在提高胚长、粒长、粒宽、粒重和缩短开花期方面具有显著作用,对提高幼苗根干重和地上部苗子干重方面具有显著优势,而对分蘖数和小穗数具有一定负效应。比较分析表明,QEL.sicau.1B和QEL.sicau.3B.2可能为新位点。【结论】通过全基因组关联分析检测到4个与胚大小显著相关的稳定QTL,针对胚长位点QEL.sicau.1B,预测了9个可能的候选基因。证实胚大小与籽粒大小呈显著正相关,且与苗期根系活力有一定关联。 展开更多
关键词 小麦 胚大小 SNP标记 全基因组关联分析 农艺性状 根系性状 候选基因
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基于GWAS的大豆光周期敏感性候选基因挖掘
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作者 李敏敏 朱治佳 +5 位作者 张继雨 何小春 张中起 邱牧 陈泽浩 李磊 《种子》 北大核心 2026年第1期79-87,共9页
为解析大豆光周期敏感性的分子机制,对78个大豆品种的光周期敏感性开展全基因组关联分析(GWAS)。结果表明,在黑龙江、吉林和辽宁三省的田间试验中鉴定到6个显著关联的SNPs位点,其表型变异解释率为22.69%~31.97%。通过基因注释筛选出3个... 为解析大豆光周期敏感性的分子机制,对78个大豆品种的光周期敏感性开展全基因组关联分析(GWAS)。结果表明,在黑龙江、吉林和辽宁三省的田间试验中鉴定到6个显著关联的SNPs位点,其表型变异解释率为22.69%~31.97%。通过基因注释筛选出3个候选基因(Glyma.03G174300、Glyma.03G174500和Glyma.13G157800),这些基因的表达均受光周期调控,在长日照和短日照条件下差异显著,并在花器官中特异性表达,呈先升后降的动态变化,提示其可能参与花器官分化。单倍型分析发现,Glyma.03G174300中的若干单倍型主要分布于高纬度生态区Ⅰ,另一些多见于低纬度地区;Glyma.03G174500的不同单倍型分别在生态区Ⅰ、Ⅱ、Ⅲ和Ⅳ中占优势;Glyma.13G157800在6个生态区均以hap_1为主,其余单倍型分布范围较窄。 展开更多
关键词 大豆 光周期敏感性 gwas 基因挖掘
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Substantia nigra related gene polymorphisms associated with antipsychotic-induced acute movement disorders:a genome-wide association study and multi-ancestry validation in schizophrenia
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作者 Zhe Lu Yao-Yao Sun +5 位作者 Zhe-Wei Kang Guo-Rui Zhao Yu-Yanan Zhang Jun-Yuan Sun Rui Yuan Wei-Hua Yue 《Military Medical Research》 2026年第2期185-197,共13页
Background:Antipsychotic-induced movement disorders(AIMDs)are prevalent side effects of antipsychotics,particularly during the acute phase of treatment.This study aimed to elucidate the genetic mechanisms underlying A... Background:Antipsychotic-induced movement disorders(AIMDs)are prevalent side effects of antipsychotics,particularly during the acute phase of treatment.This study aimed to elucidate the genetic mechanisms underlying AIMDs using a genome-wide association study(GWAS).Methods:GWASs on AIMDs were conducted in three independent cohorts:a discovery cohort of 3067 patients(2016 subjects were reserved after quality control),a validation cohort of 277 patients,and a multi-ancestry validation cohort of 766 patients.Subsequent post-GWAS analyses included gene-based analyses,transcriptome-wide association studies(TWASs),and polygenic risk score(PRS)profiling.Results:Our study identified two loci located in RAB44 gene(rs116249243,P=5.98×10^(-9);rs117097482,P=1.17×10^(-8))associated with extrapyramidal symptoms(EPSs),1 locus(rs6826172,P=5.56×10^(-9))related to akathisia,and 76 loci linked to involuntary movements(11 genes were mapped).Risk loci located in CNTNAP2,LUZP2,TMEM167A,and RAB44 genes were successfully replicated in the validation cohort,whereas the locus located in RAB44 was also replicated in the multi-ancestry cohort.Gene-based analyses indicated that XRCC4 and PAIP2B reached significance at the genome-wide level in involuntary movements.Tissue expression analysis revealed that involuntary movement-related genes are predominantly expressed in the substantia nigra.Additionally,the TWAS suggested a causal relationship between XRCC4 and involuntary movement.The PRSs derived from the discovery cohort significantly predicted AIMDs in the validation cohort,with area under the receiver operating characteristic curve(AUC)values from 0.60 to 0.80.Conclusions:Our findings highlight the role of substantia nigra related gene polymorphisms in AIMDs.This study provides novel insights into the pathogenesis of AIMDs and supports the potential for personalized treatment approaches for schizophrenia. 展开更多
关键词 ANTIPSYCHOTIC Movement disorders Genome-wide association study(gwas) Substantia nigra Multiancestry validation
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Genome-wide association study(GWAS)identifies genetic loci and candidate genes for variation in protein and oil content in Sesamum indicum L.
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作者 Habtamu Kefale Rong Zhou +6 位作者 Muez Berhe Ahmed A.Abbas Chris O.Ojiewo Huan Li Ting Zhou Jun You Linhai Wang 《Oil Crop Science》 2025年第4期337-347,共11页
Sesame(Sesamum indicum L.)is an ancient diploid oilseed crop valued for its high oil content,quality protein,unsaturated fatty acids,and antioxidants.The emerging research focuses on the utilization of vegetable prote... Sesame(Sesamum indicum L.)is an ancient diploid oilseed crop valued for its high oil content,quality protein,unsaturated fatty acids,and antioxidants.The emerging research focuses on the utilization of vegetable proteins in the development of novel products and the formulation of functional foods.Developing sesame genotypes with higher protein and oil content is a current focus for improving sesame quality traits,as preferred by the sesame seed oil industry and consumers.Despite previous genome-wide association studies(GWAS)on various agronomic and biochemical traits in sesame,the genetic basis of protein content and oil content remains limited.Therefore,this study was designed to identify candidate genes and quantitative trait loci(QTLs)regulating the target traits using 401 sesame accessions grown in three environments(2018WH,2018LQ,and 2022WH).The protein and oil content in the sesame population varied significantly.The protein content ranged from 15.06%to 26.45%,while the oil content was between 41.68%and 60.15%.Furthermore,the white seeds had a higher oil content,while the black seeds had a higher protein content,indicating an association between seed colour and oil and protein content.GWAS results revealed that 632 and 269 QTLs were selected as significant genetic regions for protein and oil content,respectively.Of these significant QTLs,we identified 10 and 22 stable QTLs for protein and oil content,respectively.A total of 17 candidate genes related to protein and oil content were identified within 32 stable quantitative trait loci(QTLs).Interestingly,two variant sites,SNP13:10093594 and In Del13:10935497,related to protein content,were identified in the gene sequences of SINPZ1300586 and SINPZ1300694.Four SNPs,SNP1:22608987,SNP4:13355820,SNP8:21686488,and SNP11:142842,for oil content were found correspond to the genes SINPZ0102106,SINPZ0401222,SINPZ0801731,and SINPZ1100015,respectively.The findings provide light on the genetic basis of protein and oil characteristics.These genes and QTLs can aid the molecular breeding and genetic engineering of innovative sesame germplasm,with improved potential for protein and oil content,as well as desired quality attributes. 展开更多
关键词 SESAME Quality traits Oil content Protein content gwas QTLS
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Association between serum 25(OH)D levels and cancer in adults with psoriasis:A cross-sectional study 被引量:1
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作者 Lingquan Deng Yamei Gao +1 位作者 Chenxingyue Zhang Zhiqiang Yin 《Journal of Biomedical Research》 2026年第2期224-226,共3页
Dear Editor,Psoriasis,a chronic inflammatory cutaneous condition,is characterized by the development of red plaques with silvery scales,significantly affecting patients'quality of life and mental health[1].This co... Dear Editor,Psoriasis,a chronic inflammatory cutaneous condition,is characterized by the development of red plaques with silvery scales,significantly affecting patients'quality of life and mental health[1].This condition is thought to affect approximately 2%of the Western population,with diagnosis peaking in early adulthood[2].Vitamin D,a fat-soluble vitamin,is essential for phospho-calcium metabolism,calcium homeostasis,and bone health. 展开更多
关键词 serum oh d levels CANCER cross sectional study inflammatory cutaneous conditionis PSORIASIS ADULTS
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Causal relationships of inflammatory cytokines and serum metabolites with colorectal carcinoma: A Mendelian randomization study
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作者 FENG Sisi XIAO Xiaomin +2 位作者 ZHOU Manli HUANG Zixin ZHONG Baiyun 《中南大学学报(医学版)》 北大核心 2026年第1期118-128,共11页
Objective:The incidence and mortality of colorectal carcinoma(CRC)continue to rise globally,highlighting the need to identify modifiable risk factors for early detection and prevention.Previous studies have demonstrat... Objective:The incidence and mortality of colorectal carcinoma(CRC)continue to rise globally,highlighting the need to identify modifiable risk factors for early detection and prevention.Previous studies have demonstrated significant associations between CRC risk and various serum metabolites as well as inflammatory cytokines;however,due to limitations in study design and potential confounding factors,the causal relationships remain unclear.This study aims to investigate the causal relationships between inflammatory cytokines,serum metabolites,and CRC risk,providing a theoretical basis for the development of novel early diagnostic biomarkers and therapeutic targets.Methods:A two-sample Mendelian randomization(MR)design was applied using summary statistics from genome-wide association studies(GWAS).Instrumental variables(IVs)were derived from:1)metabolomics GWAS data of 1400 serum metabolites(n=8299);2)cytokine GWAS data of 91 inflammatory factors(n=14824);and 3)CRC risk data from the FinnGen consortium(6847 cases and 314193 controls).The primary analysis was conducted using the inverse-variance weighted(IVW)method,with sensitivity analyses performed using MR Egger regression and the weighted median method.Effect estimates including odds ratios(OR),95%confidence intervals(CI),and false discovery rates(FDR)were calculated.Results:MR analysis indicated that higher levels of axin-1(AXIN1)(OR=0.84195%CI 0.714 to 0.991)and Fms-related tyrosine kinase 3 ligand(Flt3L)(OR=0.916,95%CI 0.844 to 0.994)were associated with a reduced risk of CRC.In contrast,higher levels of Delta/Notchlike epidermal growth factor-related receptor(DNER)(OR=1.119,95%CI 1.009 to 1.241)and vascular endothelial growth factor A(VEGF-A)(OR=1.078,95%CI 1.011 to 1.150)were associated with an increased risk of CRC(all P<0.05).Metabolomics association analysis further identified 144 serum metabolites significantly correlated with these four key inflammatory cytokines(FDR<0.05),suggesting that they may regulate CRC risk through inflammatory pathways.Conclusion:Specific inflammatory cytokines and serum metabolites have causal relationships with the risk of CRC.These findings provide insights for further exploration of potential risk factors and the development of effective prevention strategies for CRC. 展开更多
关键词 inflammatory cytokines serum metabolites colorectal carcinoma Mendelian randomization genome-wide association study metabolomics analysis
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A genome-wide association study reveals additive and recessive alleles affecting male fertility in pigs
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作者 Pedro Sa Marta Gòdia +4 位作者 Rodrigo M.Godinho Claudia A.Sevillano Barbara Harlizius Ole Madsen Henk Bovenhuis 《Journal of Animal Science and Biotechnology》 2026年第2期696-710,共15页
Background Understanding the genetic basis of male reproduction in mammals remains challenging.Commercial pig populations offer a unique model for studying fertility,as semen traits are routinely recorded using high-t... Background Understanding the genetic basis of male reproduction in mammals remains challenging.Commercial pig populations offer a unique model for studying fertility,as semen traits are routinely recorded using high-throughput systems.Results In a large-scale GWAS of 15 semen traits based on 286,314 ejaculates collected from 2,954 boars of a purebred pig line,we identified 10 QTL,including four loci with recessive deleterious alleles.Several lead SNPs affected multiple semen traits.For example,a SNP on SSC6 was significantly associated with distal cytoplasmic droplets and with effects on tail abnormalities and sperm motility in a follow up analysis.The allele frequencies of some loci were different in older boar's,most likely due to culling based on poor semen quality.Using WGS,we identified six missense variants in high linkage disequilibrium(LD)with lead SNPs in genes related to sperm production(e.g.,MEIOB,CFAP74 and UBE2B).Remarkably,the frequency of some alleles with predicted deleterious effects on semen traits increased between 2013 and 2019.Conclusions Our results highlight loci with major effects on semen quality,some of which are linked to functional variants in key genes involved in spermatogenesis.The information from this study can be used to select against deleterious alleles affecting semen characteristics in pigs and provides valuable insight into the genetics of mammalian male fertility. 展开更多
关键词 gwas Male fertility MEIOB PIG Semen traits UBE2B
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A Benchmark Study of Density Functional Theory(DFT)Methods for Mo-Catalyzed Carbonyl Oxidative Addition
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作者 Chen Zitong Wang Liwei +1 位作者 Shen Xiao Qi Xiaotian 《有机化学》 北大核心 2026年第2期507-514,共8页
In molybdenum chemistry,the oxidative addition of o-quinone or 1,2-dicarbonyl compounds to molybdenum has been widely used in Mo-catalyzed C—C bond construction.The carbonyl oxidative addition to Mo(0)or Mo(Ⅱ)is the... In molybdenum chemistry,the oxidative addition of o-quinone or 1,2-dicarbonyl compounds to molybdenum has been widely used in Mo-catalyzed C—C bond construction.The carbonyl oxidative addition to Mo(0)or Mo(Ⅱ)is the critical elementary reaction of molybdenum catalysis.However,the relevant density functional theory(DFT)studies are relatively scarce,especially regarding the rational selection of functionals.In this work,14 functionals were employed to investigate the Mo-catalyzed carbonyl oxidative addition step.A benchmark study was carried out to evaluate their performance in structure optimization and energy calculation.Analyses of mean absolute error(MAE)and mean squared error(MSE)indicated that the B3LYP-D3(BJ),TPSSh,and ωB97X-D functionals exhibited superior performance in structure optimization.Using the DLPNO-CCSD(T)functional as the reference,the M06,M06-L,and MN15-L functionals exhibited good performance for energy calculation based on the structures optimized using the B3LYP-D3(BJ)functional.In particular,MN15-L provided the best performance with the smallest MAE and MSE. 展开更多
关键词 molybdenum catalysis carbonyl oxidation addition density functional theory(DFT)calculation DFT benchmark study
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Root cause analysis from the perspectives of patients in primary care units:cases study of typical adverse drug events
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作者 Ping Gong Xing-Yang Chen +1 位作者 Qin Long Ting-Ting Zhou 《Frontiers of Nursing》 2026年第1期61-68,共8页
Objective:To identify the root causes of typical adverse drug events through the lens of patient experiences proposing novel strategies to mitigate preventable harm.Methods:A qualitative case study leveraging in-depth... Objective:To identify the root causes of typical adverse drug events through the lens of patient experiences proposing novel strategies to mitigate preventable harm.Methods:A qualitative case study leveraging in-depth interviews with patients and families,anchored by Interactive Patient Par ticipation Theory,to analyze 4 high-severity adverse drug events(ADE)cases.Cases were purposively sampled from 8 communities in China's National Adverse Event Monitor Center(2018-2023).Semi-structured interviews explored patient perspectives,with data analyzed via thematic coding and triangulation against clinical records.Results:Five interconnected themes emerged:(1)erosion of trust,(2)communication breakdowns,(3)information asymmetry,(4)environmental inadequacies,and(5)technological alienation.Notably,75% of participants had≤high school education,and 50% used≥7 medications daily,compounding ADE risks.Conclusions:We considered elements mentioned by theory,exploring trust,communication,information,and suppor t as the root causes.In addition,we added“adaptability to new technology”as an impor tant and necessary component.It is impor tant and necessary to analyze typical adverse drug events from the perspectives of patients. 展开更多
关键词 adverse drug events case study medication safety patients safety primary care units root cause analysis qualitative study THEORY
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A comparative study of national electric bicycle standards in China and Malaysia
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作者 Wei Yilin Qin Lujuan Yang Mengying 《China Standardization》 2026年第2期57-61,共5页
China ranked first worldwide in the production and export of electric bicycles.As an emerging market for electric bicycles,Malaysia holds significant potential for trade collabor ation with China in this sector.This s... China ranked first worldwide in the production and export of electric bicycles.As an emerging market for electric bicycles,Malaysia holds significant potential for trade collabor ation with China in this sector.This study presents a compar ative analysis of the national electric bicycle standards in China and Malaysia,offering technical insights from a standardization perspective.These insights aim to support Chinese enterprises in strategically positioning their technologies in the Malaysian market.The findings reveal significant differences in technical parameters,safety requirements,and testing methods,highlighting the need for tailored product adapt ation. 展开更多
关键词 electric bicycle STANDARDS comparative study
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Innovating Talent Cultivation Through Industry-Education Integration and AI:A Case Study of the“Program Comprehension and Analysis”Course
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作者 Tiantian Wang Xiaohong Su +1 位作者 Yuan Jiang Liyan Song 《计算机教育》 2026年第3期74-80,共7页
This paper investigates the teaching reform of the Program Comprehension and Analysis course in the context of industry-education integration and AI empowerment.To align with the evolving needs of the software industr... This paper investigates the teaching reform of the Program Comprehension and Analysis course in the context of industry-education integration and AI empowerment.To align with the evolving needs of the software industry,the course content has been updated to incorporate AI techniques such as large language models and deep learning.The reform enriches educational resources and introduces innovative instructional approaches.In addition,high-quality practical teaching cases have been developed,and immersive,hands-on learning experiences have been designed based on industrial platforms and real-world applications.These initiatives aim to enhance the practical skills and innovative thinking of professional degree graduate students,fostering high-caliber talent that aligns with industry demands.A survey of 90 graduate students revealed high levels of satisfaction regarding course content,teaching methodology,and skill development.The reform has proven effective in cultivating interdisciplinary professionals with solid foundations in software engineering and AI-driven innovation. 展开更多
关键词 Industry-education integration AI empowerment Project-driven Case studies
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Ethical awareness and issues in gastrointestinal endoscopy practice:A survey study
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作者 Yi Qin Ming-Yang Shi 《World Journal of Gastroenterology》 2026年第1期151-157,共7页
BACKGROUND Gastrointestinal endoscopy technology has significantly improved the diagnostic accuracy and the successful treatment of gastrointestinal diseases.However,a series of ethical issues have emerged,such as exp... BACKGROUND Gastrointestinal endoscopy technology has significantly improved the diagnostic accuracy and the successful treatment of gastrointestinal diseases.However,a series of ethical issues have emerged,such as expanding treatment indications,which affect the fair distribution of medical resources.There is limited research on ethical issues in the field of digestive endoscopy.AIM To investigate the level of ethical awareness among gastrointestinal endoscopy practitioners and analyze the ethical issues involved in gastrointestinal endoscopy technology.METHODS A questionnaire survey was performed to collect relevant data(gender,age,degree of education,professional title,personnel category,the level of understanding medical ethical principles,ethics training and its learning pathways)from gastrointestinal endoscopy practitioners at the Second Hospital of Dalian Medical University and Dalian Friendship Hospital,including licensed physicians and nurses(including trainees and graduate students).RESULTS The majority of gastrointestinal endoscopy practitioners have received training on ethics,but there is still considerable room for improvement in their ethical awareness.Different learning pathways may affect the mastery of ethical principles, and understanding of ethical principles is more easily achieved through hospital ethics institutions.CONCLUSIONTo address the ethical issues in gastrointestinal endoscopy technology, it is necessary to enhance the humanisticeducation of gastrointestinal endoscopy practitioners, incorporate ethical standards into the technology assessmentprocess, and establish a patient-centered diagnostic and treatment model to improve the ethical awareness of practitionersand achieve a balance between technology and ethics. 展开更多
关键词 Gastrointestinal endoscopy Ethical awareness Ethical issues Medical ethics Survey study
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Genomic insights of leafminer resistance in spinach through GWAS approach and genomic prediction
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作者 Ibtisam Alatawi Haizheng Xiong +6 位作者 Beiquan Mou Kenani Chiwina Waltram Ravelombola Qun Luo Yiting Xiao Yang Tian Ainong Shi 《Horticultural Plant Journal》 2026年第2期356-368,共13页
The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleot... The Leafminers,representing a diverse group of insects from various genera within the Agromyzidae family,pose a significant threat to spinach(Spinacia oleracea L.)production.This study aimed to identify single nucleotide polymorphism(SNP)markers associated with leafminer resistance through a genome-wide association study(GWAS)and to evaluate the prediction accuracy(PA)for selecting resistant spinach using genomic prediction(GP).Using a dataset of 84301 SNPs obtained from whole-genome resequencing,seven GWAS models,including BLINK,FarmCPU,MLM,and MLMM in GAPIT 3,as well as MLM,GLM,and SMR in TASSEL 5,were employed to perform GWAS on a panel of 286 USDA spinach germplasm accessions.Three SNP markers,namely 1_115279256_C_T,3_157082529_C_T,and 4_168510908_T_G on chromosomes 1,3,and 4,respectively,were identified as associated with leafminer resistance.In the 30 kb flanking regions of these markers,four candidate genes(SOV1g031330,SOV1g031340,SOV4g047270,and SOV4g047280),encoding LOB domain-containing protein,KH domain-containing protein,were discovered.Nodulin-like domain-containing protein,and SAM domain-containing protein,were discovered.The PA for leafminer resistance selection was estimated using ten different SNP sets,including two GWAS-derived marker sets(three and 51 SNPs)and eight random marker sets(ranging from 51 to 10 K SNPs)analyzed by seven GP models.The findings emphasized the superior performance of GWAS-derived SNP sets,reaching a PA of up to 0.79 using the cBLUP model.Notably,this research marks the pioneering application of GP in the context of insect resistance,providing a significant advancement in the understanding and management of leafminer resistance in spinach cultivation. 展开更多
关键词 Spinach germplasm Genome-wide association study Pest resistance Genomic prediction
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A National Follow-up Study on the Effect of Health Protective Factors on Frailty Transition among Older Adults in China
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作者 Jing Shi Ziyi Zhou +12 位作者 Baiyu Zhou Yongkang Tao Yan Cen Luyao Zhang Sainan Li Ying Li Botao Sang Xiangfei Liu Qinan Ma Xuezhai Zeng Pulin Yu Jing Li Deping Liu 《Biomedical and Environmental Sciences》 2026年第3期270-284,共15页
Objective Frailty is becoming increasingly common among aging adults.Frailty transitionis shaped by biological,social,psychological,and environmental factors.This study investigated combined effects of protective fact... Objective Frailty is becoming increasingly common among aging adults.Frailty transitionis shaped by biological,social,psychological,and environmental factors.This study investigated combined effects of protective factors on frailty transition by constructing a Protection Index(PI)to guide targeted interventions.Methods Data were extracted from the 4th Sample Survey of the Aged Population in Urban and Rural China,including baseline(2017)and follow-up(2019)surveys.Frailty was assessed using the Frailty Index(FI),whereas the PI measured protective factors.Frailty transitions over 2 years were analyzed prospectively.Pearson’s correlation examined the relationship between FI and PI,and logistic regression assessed the effects of PI on frailty transitions.Results This study included 9,093 older adults.FI values increased with age and were higher in women,whereas PI values decreased with age and were higher in men.Over 2 years,56.2%of the participants showed a stable frailty status,14.2%improved,and 29.6%worsened.Negative transitions were more common than positive transitions,with transitions occurring most frequently between adjacent states.The PI was moderately negatively correlated with the FI(r=−0.349,P<0.001).A higher PI was associated with a lower risk of negative transitions among robust and prefrail individuals(OR=0.989,0.981,both P<0.05),but showed no significant effect among those with existing frailty.Conclusion Negative frailty transitions were more common with advancing age.Enhancing PI may help prevent negative frailty transitions among robust and pre-frail older adults,underscoring the value of early interventions. 展开更多
关键词 Frailty transition FRAILTY Older adults Protective factors Follow-up study National survey
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Genome-wide association study reveals genomic regions for nitrogen,phosphorus and potassium use efficiency in bread wheat
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作者 Jili Xu Shuo Liu +4 位作者 Zhiyuan Gao Qingdong Zeng Xiaowen Zhang Dejun Han Hui Tian 《Journal of Integrative Agriculture》 2026年第3期847-863,共17页
The development of wheat cultivars with improved nitrogen(N),phosphorus(P),and potassium(K)use efficiency is essential for sustainable agriculture.Genetic dissection and identification of causative genes underlying nu... The development of wheat cultivars with improved nitrogen(N),phosphorus(P),and potassium(K)use efficiency is essential for sustainable agriculture.Genetic dissection and identification of causative genes underlying nutrient use efficiency represent a key strategy toward this goal.We conducted an extensive genome-wide association study(GWAS)using a panel of 431 wheat cultivars,identifying 1,659 significant single-nucleotide polymorphisms(SNPs)(LOD>5)through genotyping-by-sequencing.This analysis revealed 534 quantitative trait loci(QTLs)associated with 12 nutrient use efficiency traits across five distinct environments,among which 14 QTLs were consistently detected in at least three environments.Notably,meta-QTL analysis,showed that QTL80(72.12–74.24 Mb,chr2A),QTL387(32.88–33.56 Mb,chr6A),and QTL500(535.53–540.80 Mb,chr7B)exhibit clear co-localization with MQTL-2A-2,MQTL-6A-1,and MQTL-7B-2,respectively.This overlap highlights their robustness across diverse environmental conditions.Within these regions,critical candidate genes-including members of the bZIP transcription factor family and a potassium transporter gene-were identified in relation to nutrient use efficiency.Furthermore,a novel locus,QTL234,was discovered,harboring key candidate genes such as dof zinc finger protein,Ankyrin repeat family protein,and cytochrome P450.To validate the SNP within QTL234 associated with nitrogen harvest index(NHI),we developed a dCAPS marker for AX-109095537.These findings demonstrate the effectiveness of high-resolution SNP-based GWAS in rapidly pinpointing promising candidate genes.They also establish a foundation for large-scale QTL fine mapping,candidate gene validation,and the development of functional markers essential for enhancing nutrient use efficiency in wheat breeding programs. 展开更多
关键词 WHEAT genome-wide association study nutrient use efficiency meta-QTL analysis candidate genes
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Causal relationships between 41 inflammatory cytokines and myopia:a Mendelian randomization study
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作者 Xiao-Fei Wu Lei Yu +3 位作者 Ying Zhang Shuang Li Rui Li Lian-Yi Sun 《International Journal of Ophthalmology(English edition)》 2026年第3期575-581,共7页
AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)da... AIM:To investigate the potential causal associations between 41 inflammatory cytokines and myopia using a two-sample Mendelian randomization(MR)approach.METHODS:Publicly available genome-wide association study(GWAS)datasets were utilized for this two-sample MR analysis.Inflammatory cytokine-related GWAS data were extracted from The University of Bristol’s Research Data Repository,and myopia-related GWAS data were obtained from the FinnGen project.Single nucleotide polymorphisms(SNPs)associated with inflammatory cytokines were systematically selected as instrumental variables(IVs)based on three rigorous criteria:relevance,independence,and exclusion of pleiotropy.Five MR methods were employed for causal inference:the inverse-variance weighted(IVW)method as the primary analysis,supplemented by MREgger regression,weighted median estimator,simple mode,and weighted mode approaches.Sensitivity analyses were performed to evaluate the robustness of the causal estimates.RESULTS:A total of 773 myopia-associated SNPs were identified.MR analysis revealed that higher levels of macrophage inflammatory protein 1-α(MIP-1α)were associated with a 17%reduced risk of myopia[odds ratio(OR)=0.83;95%confidence interval(CI):0.69-0.99;P<0.05].In contrast,elevated levels of eotaxin(OR=1.26;95%CI:1.07-1.47;P<0.01),stromal cell-derived factor-1α(SDF-1α;OR=1.68;95%CI:1.08-2.62;P<0.05),and interleukin-2 receptor subunit alpha(IL-2Rα;OR=1.25;95%CI:1.01-1.53;P<0.05)were significantly associated with an increased risk of myopia.Sensitivity analyses confirmed the reliability of these results.CONCLUSION:This study provides evidence supporting a causal relationship between specific inflammatory cytokines and myopia.MIP-1αmay act as a protective factor against myopia,while eotaxin,SDF-1α,and IL-2Rαare potential risk factors for myopia.These findings emphasize the critical role of inflammatory pathways in the pathogenesis of myopia,offering novel insights for the development of preventive and therapeutic strategies for myopia. 展开更多
关键词 MYOPIA inflammatory cytokines Mendelian randomization causal association single nucleotide polymorphism genome-wide association study
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Genomic sequencing as a key primary recommendation for neonatal hyperbilirubinemia:a population-based multicenter study
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作者 Dabin Huang Xia Gu +10 位作者 Weizhong Li Hongying Mi Haiquan Zeng Guiying Zhuang Sitao Li Congcong Shi Tao Wei Wei Zhou Xin Xiao Wenhao Zhou Hu Hao 《Journal of Genetics and Genomics》 2026年第3期467-475,共9页
Genetic variations are risk factors for neonatal hyperbilirubinemia(NHB),a common cause of infant hospitalization in the first postnatal week,but their contribution and long-term impacts remain unclear.This population... Genetic variations are risk factors for neonatal hyperbilirubinemia(NHB),a common cause of infant hospitalization in the first postnatal week,but their contribution and long-term impacts remain unclear.This population-based multicenter study enrolls 1780 hospitalized NHB newborns and 38,158 genetically screened newborns across 20 hospitals(2019-2022).Excluding cases with clear clinical causes,977 NHB cases are categorized into genetic variation-positive and-negative groups.Results show significantly higher NHB-related gene variants(81.63%vs.65.62%)and positive variation rates(36.29%vs.9.4%)in NHB cases than in the general newborn population(all P<0.001).Among the 977 NHB cases,325(33.3%)have positive variants,with higher rates of severe hyperbilirubinemia(16.9%vs.9.7%,P=0.001),prolonged jaundice(36.3%vs.27.6%,P=0.005),and cholestasis/hypercholanaemia(23.7%vs.14.7%,P<0.001)in the positive group.Cumulative genetic variants in bilirubin metabolism pathways exhibit dosedependent associations with increased risks of complications.Long-term follow-up reveals that UGT1A1 variants prolong jaundice up to one month,while severe SLC10A1 variants cause persistent cholestasis/hypercholanaemia beyond nine months.This large-scale evidence highlights genetic factors as key NHB determinants,with implications for neonatal care protocols to integrate genetic testing and establish longterm surveillance for variant carriers. 展开更多
关键词 Neonatal hyperbilirubinemia Jaundice polygene metabolic disorder Genetic variations Prolonged jaundice Multicenter observational study
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Association of traditional Chinese medicine syndromes with blood lipid profiles and cardiovascular prognosis in post-percutaneous coronary intervention atherosclerotic cardiovascular disease patients:a prospective cohort study
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作者 Huangyu Xu Qian Li +5 位作者 Haozhe Xiong Weidong Hong Xinyi Zhou Xiaoyan Lu Xiaoli Liu Xinrong Fan 《Digital Chinese Medicine》 2026年第1期91-102,共12页
Objective Patients with atherosclerotic cardiovascular disease(ASCVD)following percutaneous coronary intervention(PCI)are classified as very-high-risk individuals in cardiovascular disease(CVD)risk stratification.The ... Objective Patients with atherosclerotic cardiovascular disease(ASCVD)following percutaneous coronary intervention(PCI)are classified as very-high-risk individuals in cardiovascular disease(CVD)risk stratification.The distribution pattern of traditional Chinese medicine(TCM)syndromes in this patient population,as well as its association with blood lipid profiles and clinical prognosis,remains unclear.The present prospective cohort study aims to investigate these correlations,thereby providing insights to enrich the research fields.Methods We enrolled consecutive patients with ASCVD who underwent PCI at the Integrated Cardiology Unit of China-Japan Friendship Hospital between September 1,2020 and December 31,2022.Demographics and clinical characteristics,signs and symptoms defining each TCM syndrome,and fasting venous blood samples were collected at baseline and follow up or upon major adverse cardiovascular events(MACEs).We analyzed the correlation between TCM syndromes,blood lipid profiles,and MACEs,and developed a new joint prognostic model incorporating both TCM syndromes and blood lipids using logistic regression.The analyses were based on detailed baseline and one-year follow-up data.Results A per-protocol analysis was performed on 586 patients with complete data ultimately.During the one-year follow-up,174 patients(29.69%)experienced a MACE.We performed statistical analyses on comorbidities,medication,and biochemical indicators across groups defined by TCM syndrome differentiation.When comparing different TCM syndromes,no significant differences were found in age,body mass index(BMI),history of revascularization,comorbidities,family history of CVD,smoking or drinking,or statin intensity(P>0.05).Patients with intertwined phlegm and blood stasis syndrome exhibited significantly higher levels of total cholesterol(TC,5.27±1.18 mmol/L,P<0.001),triglyceride(TG,1.96±1.33 mmol/L,P=0.008),low-density lipoprotein cholesterol(LDL-C,3.35±0.79 mmol/L,P<0.001),and high-density lipoprotein cholesterol(HDL-C,1.24±0.81 mmol/L,P<0.001)compared with those with other TCM syndromes combined.A multivariable logistic regression model was constructed to predict MACEs.The model included TCM syndrome type[with intertwined phlegm and blood stasis as a predictor,adjusted odds ratio(OR)=1.413,95%confidence interval(CI):0.517–3.864,P=0.501],age(adjusted OR=0.97,95%CI:0.955–1.001,P=0.057),male gender(adjusted OR=0.698,95%CI:0.416–1.170,P=0.173),TC(adjusted OR=1.004,95%CI:0.513–1.965,P=0.990),and LDL-C(adjusted OR=5.825,95%CI:2.214–15.326,P<0.001).This model demonstrated good discriminatory ability for MACEs in post-PCI ASCVD patients[the area under the receiver operating characteristic(ROC)curve(AUC)=0.865,95%CI:0.816–0.914].Conclusion The intertwined phlegm and blood stasis TCM syndrome is associated with a distinct atherogenic lipid profile characterized by elevated levels of TC and LDL-C.The prognostic model that incorporates this TCM syndrome type along with conventional lipid parameters(TC and LDL-C)shows good discriminatory ability for predicting MACEs in ASCVD patients after PCI,underscoring the potential clinical utility of integrating TCM syndrome differentiation into CVD risk assessment. 展开更多
关键词 Atherosclerotic cardiovascular disease Post-percutaneous coronary intervention Traditional Chinese medicine syndromes Blood lipids Cohort study
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