Objective: To investigate the relationship between polycystic ovary syndrome (PCOS) susceptibility single nucleotide polymorphisms (SNP) and metabolic phenotypes in glucose and lipid metabolism and explore the pathophysiological mechanism of the susceptibility genes.
Methods: Three of PCOS susceptibility locus 2p16.3 (rs13405728 of LHCGR gene), 2p21 (rs13429458, rs12478601 of THADA gene) and 9q33.3 (rs2479106, rs10818854 of DENNDIA gene) were selected and the metabolic phenotypes were compared between different genotypes of SNP in PCOS patients (using dominant model).
Results: Low-density lipoprotein cholesterol was significantly increased in CC genotype group than in TC + TT groups at rs12478601 of THADA gene [(2.5 ± 0.8), (2.4 ± 0.8) mmol/L; P = 0.01]. Serum insulin level of 2 hours after 75 g glucose intake was significantly higher in GG+AG groups than that of AA group at rs2479106 of DENND1A gene[(71 ± 65), (64 ± 50) mU/L; P = 0.05 ], and the prevalence of type II diabetes in first-degree relatives of patients were also increased [9.9% (66/666), 6.9% (52/751); P < 0.05]. No association was found between metabolic phenotypes and genotypes of rs13429458, rs10818854, and rs13405728.
Conclusions: Genetic factors probably have effect on the metabolic characteristics of PCOS. THADA gene is related to lipid metabolism, while DENND1A gene may be involved in insulin metabolism in patients with PCOS.