安徽医科大学学报2026，Vol.61Issue(5)：931-936,6.DOI:10.19405/j.cnki.issn1000-1492.2026.05.018
EDNRA基因多态性与汉族男性先天性双侧输精管缺如的相关性研究
Relationship between EDNRA gene polymorphisms and congenital bilateral absence of the vas deferens in the male Han Chinese population
摘要
Abstract
Objective To investigate the association between endothelin receptor type A gene(EDNRA)and con-genital bilateral absence of the vas deferens(CBAVD).Methods This case-control study consisted of 124 sub-jects with CBAVD and 100 fertile controls.Two single nucleotide polymorphisms(SNPs:rs5335 and rs1801708)in the EDNRA gene were genotyped via PCR,PCR-RFLP analysis,and direct sequencing.Results No signifi-cant differences existed between EDNRA polymorphisms and CBAVD phenotype(rs1801708:P=0.220 2,0.163 2;rs5335:P=0.805 8,0.818 6).However,the rs1801708-rs5335 haplotype AG was notably associated with an increased risk of CBAVD(P=0.008 6,OR=2.178,95%CI:1.207-3.929).A significantly protective effect of rs1801708-rs5335 haplotype GG on CBAVD(P=0.038 5,OR=0.671,95%CI:0.460-0.980)was observed.After Bonferroni correction,the result for haplotype A-G remained significant(P=0.008 6<0.0125),while hap-lotype G-G was not significant.Conclusion The rs1801708-rs5335 AG haplotype of EDNRA is a potential risk fac-tor for CBAVD development in Han Chinese.关键词
输精管/畸形/先天性双侧输精管缺如/内皮素受体A 基因/单核苷酸多态性/单倍型/汉族男性Key words
vas deferens/abnormality/congenital bilateral absence of the vas deferens/endothelin receptor type A/single nucleotide polymorphism/haplotype/Han Chinese males分类
医药卫生引用本文复制引用
彭玉婉,贺小进,杨晓玉,王晶,王彬彬,汤冬冬,魏兆莲,曹云霞..EDNRA基因多态性与汉族男性先天性双侧输精管缺如的相关性研究[J].安徽医科大学学报,2026,61(5):931-936,6.基金项目
安徽省高校科研计划项目(编号:2024AH030028) Natural Science Research Project of Anhui Educational Committee(No.2024AH030028) （编号:2024AH030028）
