Objective： The aim of the study was to investigate the association of esophageal squamous cell carcinoma （ESCC） genetic susceptibility with the single nucleotide polymorphism （SNP） rs679620 （-Lys45Glu-） in exon...Objective： The aim of the study was to investigate the association of esophageal squamous cell carcinoma （ESCC） genetic susceptibility with the single nucleotide polymorphism （SNP） rs679620 （-Lys45Glu-） in exon 2 of the romp3 gene, and the population in high incidence region of Henan （China） was selected for exploring the mechanism by case-control study, Methods： The romp3 SNP was genotyped by PCR-RFLP analysis in total 605 cases of Henan population, in which there were 227 ESCC cases and 197 controls of An-yang in Henan plus 181 controls of emigrants in Hubei from Xi-chuan of Henan, China. Results： The statistic data showed that GIG and G/A genotype frequencies of SNP rs679620 were significantly different between the controls of emigrants of Xi-chuan in Hubei and controls of An-yang in Henan （P 〈 0.01） also the ESCC cases of An-yang in Henan （P 〈 0.01）, respectively. Conclusion： This study suggests that the SNP rs679620 （-Lys45Glu-） in exon 2 of the mmp3 gene might be associated with ESCC genetic susceptibility.展开更多
Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damag...Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damage exerted by platinum agents.Alteration in this repair mechanism may affect patients’survival.Materials and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease(ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit,Careggi University Hospital,Florence(Italy),from 2015 to 2020.mRNA expression analysis and single nucleotide polymorphism(SNP)characterization of three NER pathway genes—namely ERCC1,ERCC2,and ERCC5—were performed on patient tumor samples.Results:Overall,elevated expression of ERCC genes was observed in SCLC patients compared to healthy controls.Patients with low ERCC1 and ERCC5 expression levels exhibited a better median progression-free survival(mPFS=7.1 vs.4.9 months,p=0.39 for ERCC1 and mPFS=6.9 vs.4.8 months,p=0.093 for ERCC5)and overall survival(mOS=8.7 vs.6.0 months,p=0.4 for ERCC1 and mOS=7.2 vs.6.2 months,p=0.13 for ERCC5).Genotyping analysis of five SNPs of ERCC genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the ERCC1 rs11615 SNP(p=0.24 for PFS and p=0.14 for OS)and of the rs13181 and rs1799793 ERCC2 SNPs(p=0.43 and p=0.26 for PFS and p=0.21 and p=0.16 for OS,respectively)compared to patients with homozygous mutant genotypes.Conclusions:The comprehensive analysis of ERCC gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.展开更多
High-throughput single nucleotide polymorphism(SNP) arrays have emerged as essential genotyping tools,significantly accelerating breeding programs and advancing basic research.In this study,a high-throughput 10K SNP g...High-throughput single nucleotide polymorphism(SNP) arrays have emerged as essential genotyping tools,significantly accelerating breeding programs and advancing basic research.In this study,a high-throughput 10K SNP genotyping array for wax gourd was developed using genotyping by target sequencing(GBTS),featuring 10,722 SNPs evenly distributed across all 12 chromosomes,including 278 functional loci associated with key economic traits.To demonstrate its utility,genetic distances among 19 elite inbred lines were calculated from SNP data and correlated with heterosis for single fruit weight.The results revealed that greater genetic distance was associated with higher middle parent heterosis(MPH) for single fruit weight.Furthermore,56 commercial wax gourd cultivars collected from eight regions were selected and genotyped.Population structure analysis,phylogenetic analysis,and principal component analysis(PCA) collectively indicated that these cultivars fall into two major groups.Group I,comprising black or dark green skinned wax gourds,exhibited lower genetic diversity than Group II,which includes green or light green skinned varieties,reflecting shorter genetic distances within Group I.Finally,60 polymorphic SNPs were used to construct DNA fingerprints for distinguishing the 56 cultivars.As the first high-throughput genotyping platform for wax gourd,this SNP array provides an effective and powerful tool for genetic analysis.展开更多
基金Supported by a grant from the Natural Sciences Foundation of State Ethnic Affairs Commission of China (No. 07ZN09)
文摘Objective： The aim of the study was to investigate the association of esophageal squamous cell carcinoma （ESCC） genetic susceptibility with the single nucleotide polymorphism （SNP） rs679620 （-Lys45Glu-） in exon 2 of the romp3 gene, and the population in high incidence region of Henan （China） was selected for exploring the mechanism by case-control study, Methods： The romp3 SNP was genotyped by PCR-RFLP analysis in total 605 cases of Henan population, in which there were 227 ESCC cases and 197 controls of An-yang in Henan plus 181 controls of emigrants in Hubei from Xi-chuan of Henan, China. Results： The statistic data showed that GIG and G/A genotype frequencies of SNP rs679620 were significantly different between the controls of emigrants of Xi-chuan in Hubei and controls of An-yang in Henan （P 〈 0.01） also the ESCC cases of An-yang in Henan （P 〈 0.01）, respectively. Conclusion： This study suggests that the SNP rs679620 （-Lys45Glu-） in exon 2 of the mmp3 gene might be associated with ESCC genetic susceptibility.
文摘Background:Platinum chemotherapy(CT)remains the backbone of systemic therapy for patients with smallcell lung cancer(SCLC).The nucleotide excision repair(NER)pathway plays a central role in the repair of the DNA damage exerted by platinum agents.Alteration in this repair mechanism may affect patients’survival.Materials and Methods:We conducted a retrospective analysis of data from 38 patients with extensive disease(ED)-SCLC who underwent platinum-CT at the Clinical Oncology Unit,Careggi University Hospital,Florence(Italy),from 2015 to 2020.mRNA expression analysis and single nucleotide polymorphism(SNP)characterization of three NER pathway genes—namely ERCC1,ERCC2,and ERCC5—were performed on patient tumor samples.Results:Overall,elevated expression of ERCC genes was observed in SCLC patients compared to healthy controls.Patients with low ERCC1 and ERCC5 expression levels exhibited a better median progression-free survival(mPFS=7.1 vs.4.9 months,p=0.39 for ERCC1 and mPFS=6.9 vs.4.8 months,p=0.093 for ERCC5)and overall survival(mOS=8.7 vs.6.0 months,p=0.4 for ERCC1 and mOS=7.2 vs.6.2 months,p=0.13 for ERCC5).Genotyping analysis of five SNPs of ERCC genes showed a longer survival in patients harboring the wild-type genotype or the heterozygous variant of the ERCC1 rs11615 SNP(p=0.24 for PFS and p=0.14 for OS)and of the rs13181 and rs1799793 ERCC2 SNPs(p=0.43 and p=0.26 for PFS and p=0.21 and p=0.16 for OS,respectively)compared to patients with homozygous mutant genotypes.Conclusions:The comprehensive analysis of ERCC gene expression and SNP variants appears to identify patients who derive greater survival benefits from platinum-CT.
基金supported by the Science and Technology Talent Support Project of Hunan Province,China (2022TJ-N15)the Hunan Agricultural Science and Technology Innovation Fund,China (2024CX90 and 2024CX65)the Science and Technology Innovation Program of Hunan Province,China (2021NK1006)。
文摘High-throughput single nucleotide polymorphism(SNP) arrays have emerged as essential genotyping tools,significantly accelerating breeding programs and advancing basic research.In this study,a high-throughput 10K SNP genotyping array for wax gourd was developed using genotyping by target sequencing(GBTS),featuring 10,722 SNPs evenly distributed across all 12 chromosomes,including 278 functional loci associated with key economic traits.To demonstrate its utility,genetic distances among 19 elite inbred lines were calculated from SNP data and correlated with heterosis for single fruit weight.The results revealed that greater genetic distance was associated with higher middle parent heterosis(MPH) for single fruit weight.Furthermore,56 commercial wax gourd cultivars collected from eight regions were selected and genotyped.Population structure analysis,phylogenetic analysis,and principal component analysis(PCA) collectively indicated that these cultivars fall into two major groups.Group I,comprising black or dark green skinned wax gourds,exhibited lower genetic diversity than Group II,which includes green or light green skinned varieties,reflecting shorter genetic distances within Group I.Finally,60 polymorphic SNPs were used to construct DNA fingerprints for distinguishing the 56 cultivars.As the first high-throughput genotyping platform for wax gourd,this SNP array provides an effective and powerful tool for genetic analysis.
