Association of LHCGR gene variant rs2293275 with the polycystic ovary syndrome risk: an updated meta-analysis

Abstract

Abstract Polycystic ovary syndrome (PCOS) is the most pervasive endocrinopathy among women of reproductive age and its etiopathogenesis is poorly understood. We aimed to evaluate the association of LHCGR polymorphic variant rs2293275 (p.Asn312Ser) with the PCOS risk. We performed a systematic literature survey and meta-analysis on 12 published studies containing rs2293275 and PCOS. Pooled odds ratio and confidence intervals were determined to evaluate the associations using STATA software. Bioinformatic analysis was also performed to evaluate the pathogenicity and conservation of LHCGR p.Asn312Ser. We analysed genotypic data from 2142 PCOS cases and 4464 controls from 12 independent studies. We did not find any cumulative association between the rs2293275 variant and the PCOS in the allelic model (G vs A: OR=1.30, 95%CI: 0.81 – 1.78, p>0.05) or genotypic dominant model (GG vs GA+AA: OR=1.08; 95%CI:0.65 – 1.51), with a fair heterogeneity among studies. The bioinformatic analysis revealed that the variant is highly frequent across different populations and the corresponding amino acid residue p.Asn312 is variable and unlikely to be pathogenic. The present meta-analysis indicated rs2293275 polymorphism of LHCGR gene may not modulate the risk of PCOS. More replicative studies are required to corroborate our findings.