Division of Endocrinology and Metabolism, Department of Internal Medicine, College of Medicine, Korea University, Seoul, South Korea.
Division of Endocrinology and Metabolism, Department of Internal Medicine, Ewha Womans University College of Medicine, Seoul, South Korea.
Sci Rep. 2020 Jun 26;10(1):10479. doi: 10.1038/s41598-020-66633-2.
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) and luteinizing hormone (P = 1.96 × 10) 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.
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疾病。先前针对汉族、韩国和欧洲人群的全基因组关联研究（GWAS）已经确定了多个 PCOS 易感基因位点；然而，仅有少数研究报告了易感基因与疾病表型特征的关联。本横断面研究旨在探讨 GWAS 中 PCOS 易感基因与疾病相关临床特征之间的关联。共招募了 1810 名育龄妇女，包括 927 名对照妇女和 883 名 PCOS 妇女，这些妇女根据欧洲人类生殖与胚胎学会标准进行诊断。提取基因组 DNA 并进行基因分型，然后进行 Bonferroni 检验，以确定 12 个独立 SNP 与 PCOS 临床特征之间的关联。在 PCOS 妇女中，位于 FSHB 附近的 rs11031006 与游离睾酮（P=1.94×10）和黄体生成素（P=1.96×10）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 均无关。在对照组中，没有 SNP 与任何 PCOS 特征相关。综上所述，我们的研究结果表明 FSHB 可能在 PCOS 的发生和发展中起重要作用。
