Fund programs: Natural Science Research Project of Anhui Educational Committee（No. 2024AH030028）
Authors：Peng Yuwan，He Xiaojin，Yang Xiaoyu，Wang Jing，Wang Binbin ，Tang Dongdong ， Wei Zhaolian，Cao Yunxia
Keywords：vas deferens / abnormality；congenital bilateral absence of the vas deferens；endothelin receptor type A；single nucleotide polymorphism；haplotype；Han Chinese males
DOI：10. 19405/j. cnki. issn1000 – 1492. 2026. 05. 018
〔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 in ‑ creased 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. 012 5），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.