Single nucleotide polymorphisms in binding site of miRNA-135a and targeted gene IRS2 are correlated with multiple clinical features of PCOS: A study in Chinese women

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 ([Formula: see text] 0.05) while the rs1865434’s triple genotype distribution showed a significant difference between obesity/non-obesity group ([Formula: see text] 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.