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OA
Relationship between EDNRA gene polymorphisms and congenital bilateral absence of the vas deferens in the male Han Chinese population
目的 探究内皮素A型受体基因(EDNRA)与先天性双侧输精管缺如(CBAVD)之间的关联.方法 收集汉族男性124例患有CBAVD病例人群和100例健康汉族对照人群.采用聚合酶链反应-限制性片段长度多态性技术(PCR-RFLP)和直接测序方法检测EDNRA基因中的两个单核苷酸多态性位点(rs5335、rs1801708)在两组人群中的频率分布.结果 两个多态性位点的等位基因、基因型频率在两组间差异无统计学意义(rs1801708:P=0.220 2、0.163 2;rs5335:P=0.805 8、0.818 6),单倍型 rs1801708-rs5335 AG在两组中差异有统计学意义(P=0.008 6,OR=2.178,95%CI:1.207～3.929),单倍型 rs1801708-rs5335 GG在两组中差异也有统计学意义(P=0.038 5,OR=0.671,95%CI:0.460～0.980),Bonferroni校正后结果单倍型A-G P=0.008 6<0.0125,仍然显著,单倍型G-G不显著.结论 EDNRA单倍型 rs1801708-rs5335 AG与CBAVD的发生发展有正相关性.
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.
彭玉婉;贺小进;杨晓玉;王晶;王彬彬;汤冬冬;魏兆莲;曹云霞
安徽医科大学第一附属医院妇产科,合肥 230022上海市第一人民医院生殖医学中心,上海 200080江苏省人民医院生殖医学中心,南京 210009国家人口计划生育科研所,北京 100081国家人口计划生育科研所,北京 100081安徽医科大学第一附属医院生殖医学中心,合肥 230022安徽医科大学第一附属医院生殖医学中心,合肥 230022安徽医科大学第一附属医院生殖医学中心,合肥 230022
医药卫生
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
vas deferens/abnormalitycongenital bilateral absence of the vas deferensendothelin receptor type Asingle nucleotide polymorphismhaplotypeHan Chinese males
《安徽医科大学学报》 2026 (5)
931-936,6
安徽省高校科研计划项目(编号:2024AH030028) Natural Science Research Project of Anhui Educational Committee(No.2024AH030028)
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