Association between genetic polymorphisms in chromosome region 9q21 and pelvic organ prolapse in Northwestern Chinese women

Jian Wang, Ying Wei, Baohong Mao, Wenjing Xu, Xiyun Liu, Chengbing Tao, Yongli Lu, Yannan Sheng, Qing Liu

Abstract

This study aimed to explore the association between genetic polymorphisms in the chromosome region 9q21 and the risk of pelvic organ prolapse (POP) in Northwestern Chinese women. A case-control study was conducted with 241 POP patients and 268 healthy controls, analyzing ten single nucleotide polymorphisms (SNPs) across five genes using PCR amplification and Sequenom MassArray. The results revealed significant associations between three SNPs—rs2297002 in GOLM1, rs7450 in MAK10, and rs3814535 in TLE1—and POP. Specifically, the TC genotype of rs2297002, the GA genotype of rs7450, and the AA genotype of rs3814535 were linked to an increased or decreased risk of POP. The study suggests that these genetic variants might contribute to the pathogenesis of POP in this population, offering potential markers for early diagnosis and further investigation into the molecular mechanisms underlying POP.

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