Single Nucleotide Polymorphisms and Idiopathic Male Infertility in GWAS: A Meta-Analysis

Abstract Background Infertility is a multifactorial health issue, with males accounting for half of the cases, part which appears to be idiopathic. Several genome-wide association studies (GWAS) have explored role single-nucleotide polymorphisms (SNPs) in idiopathic male infertility (IMI). However, considering inconsistent evidence, this systematic review and meta-analysis aimed assess between SNPs IMI susceptibility, via GWAS. Methods PubMed, Scopus, Web Science GWAS databases were searched eligible English until March 17th, 2021. Primary data on included. Studies' quality was assessed by Q-Genie tool. Random-effect meta-analyses performed evaluated ≥ 2 same genotype, calculating pooled odds ratios (ORs) 95% confidence intervals (CIs). I2 statistics used statistical heterogeneity. Results Out 1356 articles, nine included review. These studies, conducted Asian populations (78% China 22% Japan), moderate good quality. 121 genes 199 their Non-Obstructive Azoospermia (NOA) (78%), oligoasthenospermia, oligozoospermia asthenozoospermia, 13145 cases 21152 controls. 43% SNPs, among 38 haplogroups Y chromosome, significantly associated IMI. Meta-analysis only two SNPs: rs498422 rs3129878, NOA (OR = 1.3, CI 1.07-1.58 OR 1.36, 1.28-1.44, respectively). Discussion Although several genetic variants been identified, contribution pathogenesis remains poorly understood. Further research needed establish these testing clinical public practice. Identifying at greater risk may result personalized prevention diagnostic programs. Key messages Genome wide metanalysis, all countries, report single nucleotide infertility. Despite number identified further practice, prevention.