Polycystic ovary syndrome (PCOS) is a highly complex disorder influenced by genetic and environmental factors. Previous genome-wide association studies (GWAS) on Han Chinese, Korean, and European populations identified multiple PCOS-susceptible loci; however, only a few studies reported the association of susceptibility genes with disease phenotypic traits. This cross-sectional study aimed to investigate the association between PCOS susceptibility genes from GWAS and disease-related clinical features. A total of 1,810 reproductive-aged women were recruited, including 927 control women and 883 women with PCOS, diagnosed based on the European Society for Human Reproduction and Embryology criteria. Genomic DNA was extracted and genotyped, and a Bonferroni test was performed to determine the association between 12 independent SNPs and the clinical features of PCOS. In women with PCOS, rs11031006, nearest to FSHB, was significantly associated with free testosterone (P = 1.94 × 10-3) and luteinizing hormone (P = 1.96 × 10-3) levels. The menstruation number per year, ovarian follicular number, ovarian volume, and insulin sensitivity index were not associated with any SNP. In the control group, no SNPs were associated with any PCOS traits. Collectively, our results suggest that FSHB may play an important role in the development and progression of PCOS.

译文

多囊卵巢综合征 (PCOS) 是一种受遗传和环境因素影响的高度复杂的疾病。先前对汉族,韩国和欧洲人群进行的全基因组关联研究 (gwa) 确定了多个PCOS易感位点; 然而,只有少数研究报告了易感基因与疾病表型性状的关联。这项横断面研究旨在研究来自gwa的PCOS易感基因与疾病相关临床特征之间的关联。总共招募了1,810名育龄妇女,包括927名对照妇女和883名患有多囊卵巢综合征的妇女,根据欧洲人类生殖和胚胎学协会的标准进行诊断。提取基因组DNA并进行基因分型,并进行Bonferroni测试以确定12个独立snp与PCOS临床特征之间的关联。在PCOS女性中,最接近FSHB的rs11031006与游离睾酮 (p   =   1.94 × 10-3) 和黄体生成素 (p   =   1.96 × 10-3) 水平显著相关。每年的月经次数,卵巢卵泡数,卵巢体积和胰岛素敏感性指数与任何SNP无关。在对照组中,没有snp与任何PCOS性状相关。总的来说,我们的结果表明FSHB可能在PCOS的发展和发展中起重要作用。

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