Background: 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.
Objective: 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.
Method: 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).
Results: 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).
Conclusion: 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.
Keywords: China; Polycystic ovary syndrome (PCOS); insulin receptor substrate 2 gene (IRS2 gene); microRNA (miRNA); single nucleotide polymorphism (SNP).