Table 2

Genome-wide significant SNP identified in GWAS for sperm motility

SNP (effect/reference)Chr.Position (hg 19)Gene locusStageGenotypeEAFBeta (SE)P valueVar (%)*
rs3791686 (C/T)2212 221 870ERBB4 intronDiscovery40/307/4640.24−4.25 (0.84)4.47×10−7
Replication48/268/4630.23−3.51 (1.21)3.88×10−3
Meta-analysis−4.01 (0.69)5.40×10−92.0
  • Data are shown as the estimated linear regression statistic beta, SE and P value using an additive genetic model with adjustments for age, BMI, ejaculation abstinence and time from masturbation to test.

  • *Var (%): percentage of phenotypic variance explained by SNP.

  • BMI, body mass index; Chr, chromosome; EAF, effect allele frequency; GWAS, genome-wide association study; SNP, single nucleotide polymorphism.