Association of single nucleotide polymorphisms in the <i>RAB5B</i> gene 3′UTR region with polycystic ovary syndrome in Chinese Han women

Abstract

<b>Objective:</b> Previous genome-wide sequencing revealed that Ras-related protein Rab-5B (RAB5B) is a susceptible target in patients with polycystic ovary syndrome (PCOS).<b>Methods:</b> Direct sequencing was performed to analyze the <i>RAB5B</i> gene rs1045435, rs11550558, rs34962186, rs705700, rs58717357, rs11171718, rs60028217, rs772920 loci genotypes in 300 PCOS patients and 300 healthy controls. The plasma microRNA (miRNA)-24, miR-320 levels were measured by reverse transcription fluorescent quantitative PCR (RT-qPCR).<b>Results:</b> The risk of PCOS in C allele carriers of <i>RAB5B</i> gene rs1045435 locus was 3.91 times higher than that of G allele. The risk of PCOS in rs11550558 locus G allele was 4.09 times higher than A allele. The risk of PCOS in rs705700 locus C allele was 1.66 times greater than T allele. The risk of PCOS in rs11171718 locus A allele carrier was 3.84 times higher than G allele. The rs11550558 SNP was associated with PCOS risk only in those with age ≥ 31.1 years. And <i>RAB5B</i> gene rs11550558, rs1045435, and rs11171718 SNPs were significantly associated with PCOS risk only in subjects with BMI ≥ 23.8 kg/m² We also found that the <i>RAB5B</i> gene rs1045435 SNP was associated with plasma miR-24 levels. The <i>RAB5B</i> gene rs11550558, rs705700, rs11171718 SNPs were correlated with plasma miR-230 levels.<b>Conclusion:</b> The single nucleotide polymorphisms of the rs1045435, rs11550558, rs705700, and rs11171718 loci of the <i>RAB5B</i> gene are associated with PCOS risk. The rs1045435 locus is likely an miR-24 binding site, while rs11550558, rs705700, and rs11171718 loci may be miR-320 binding sites.