Association of DENND1A gene polymorphisms with polycystic ovary syndrome in Saudi Arabian women

Polycystic ovary syndrome (PCOS) is the most common endocrine disorder and a leading cause of infertility among women of reproductive age. Despite its increasing prevalence, the underlying molecular etiology remains poorly understood. Increasing evidence implicates genetic variants in DENND1A, a gene involved in endosomal trafficking and androgen biosynthesis regulation, in PCOS susceptibility. This study investigated the association of three intronic single-nucleotide polymorphisms (SNPs) (rs10818854, rs2479106, and rs10986105) within DENND1A with PCOS in Saudi Arabian women.多囊卵巢综合征（Polycystic ovary syndrome, PCOS）是育龄女性最常见的内分泌紊乱性疾病，亦是引发不孕的主要诱因之一。尽管其患病率持续攀升，但其潜在的分子病因学机制仍尚不明确。越来越多的研究证据显示，参与内体运输与雄激素生物合成调控的DENND1A基因的遗传变异，与多囊卵巢综合征易感性密切相关。本研究以沙特女性为研究对象，探讨了DENND1A基因内3个内含子区单核苷酸多态性（single-nucleotide polymorphisms, SNPs）——rs10818854、rs2479106及rs10986105——与多囊卵巢综合征的关联。