NHC Key Laboratory of Male Reproduction and Genetics, Guangdong Provincial Reproductive Hospital, Guangzhou, Guangdong, China.
Dongguan Institute of Reproduction and Genetics, Dongguan Maternal and Children Health Hospital, Dongguan, Guangdong, China.
Technol Health Care. 2022;30(S1):71-80. doi: 10.3233/THC-228007.
The etiology of polycystic ovary syndrome (PCOS) remains unclear with highly heterogeneous clinical manifestations, recently growing evidence revealing genetic variants play a crucial part in its pathogenesis.
This study aimed to examine the correlation between SNPs in miRNA-135a's binding site of targeted gene IRS2 and clinical manifestations of PCOS in Chinese females.
A total of 126 Chinese women with PCOS and 109 healthy women were enrolled, divided into 4 groups based on different clinical features of hyperandrogenemia (HA), insulin resistance (IR), polycystic ovary morphology (PCOM) and obesity. We analyzed 2 single nucleotide polymorphisms (SNPs) of the IRS2 gene (rs2289046 and rs1865434) and clinical features' laboratory measurements such as sex hormone, fasting plasma glucose (FPG), fasting plasma insulin (FINS).
Located in miRNA-135a binding site of IRS2 gene, the rs2289046's triple genotypes distribution showed a significant difference between PCOS/control group and PCOM/non-PCOM group (P< 0.05) while the rs1865434's triple genotype distribution showed a significant difference between obesity/non-obesity group (P< 0.05).
The results revealed the two SNPs as rs2289046 and rs1865434 in the IRS-2 binding region of miRNA-135a have correlations with the clinical features of PCOS in Chinese population.
多囊卵巢综合征(PCOS)的病因尚不清楚,其临床表现高度异质,最近越来越多的证据表明遗传变异在其发病机制中起着至关重要的作用。
本研究旨在探讨 miRNA-135a 靶向基因 IRS2 结合位点的 SNP 与中国女性 PCOS 临床表型的相关性。
共纳入 126 例 PCOS 女性和 109 例健康女性,根据高雄激素血症(HA)、胰岛素抵抗(IR)、多囊卵巢形态(PCOM)和肥胖的不同临床特征分为 4 组。我们分析了 IRS2 基因的 2 个单核苷酸多态性(SNPs)(rs2289046 和 rs1865434)和临床特征实验室测量值,如性激素、空腹血糖(FPG)、空腹胰岛素(FINS)。
位于 IRS2 基因的 miRNA-135a 结合位点,rs2289046 的三基因型分布在 PCOS/对照组和 PCOM/非 PCOM 组之间存在显著差异(P<0.05),而 rs1865434 的三基因型分布在肥胖/非肥胖组之间存在显著差异(P<0.05)。
结果表明,miRNA-135a 的 IRS-2 结合区的两个 SNP(rs2289046 和 rs1865434)与中国人群 PCOS 的临床特征相关。