Abstract
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.
Highlights
Polycystic ovary syndrome (PCOS) is a highly complex disorder influenced by genetic and environmental factors
A Chinese group reported that an A homozygote at rs13429485 near THADA was associated with increased luteinizing hormone (LH) and testosterone levels, a C homozygote for rs12478601 near THADA was associated with increased levels of low-density lipoprotein cholesterol, and G-containing rs2479106 minor alleles near DENND1A were associated with elevated insulin levels after 75-g oral glucose tolerance tests (OGTTs) in
Among the 12 loci known to be related to PCOS, the 4 SNPs near LHCGR, TOX3, RAB5B, and KHDRBS3 were significantly associated with PCOS
Summary
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; 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. Genome-wide association studies (GWAS) reported susceptible PCOS loci in Han Chinese and Caucasian populations. In the Han Chinese study, 11 susceptible genes for PCOS were identified, including LHCGR, FSHR, THADA, C9orf[3], DENND1A, YAP1, RAB5B/SUOX, HMGA2, TOX3, INSR, and SUMO1P112,13. A European study found that the G allele in rs705702 near RAB5B and SUOX was associated with glucose and insulin levels after 75-g OGTT in patients with PCOS18
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