engleski

Autosomal sex differences meta-analysis group. Genome-wide meta-analysis of autosomal SNP differences between men and women.

Introduction: The male-to-female sex ratio at birth is constant across world populations, ranging between 1.02-1.08 (102-108 male to 100 female live births), with an average of 1.06 for populations of European descent. Sex ratio is considered to be affected by numerous biological and environmental factors, and has been suggested to have a heritable component. The aim of the present study is to investigate the presence of common-allele modest effects at autosomal variants that could explain the observed sex ratio at birth. We also conducted a simulation study to assess the probability of observing significant allele frequency differences at autosomal markers between men and women. Methods: We conducted fixed and random-effects large-scale genome-wide scan (GWAS) meta-analysis across 51 studies, comprising overall 114, 863 individuals (61, 094 women and 53, 769 men) of European ancestry. Allele frequencies were compared between men and women for directly-typed and imputed common (minor allele frequency >0.05) variants within each study. Forward-time simulations for unlinked neutral biallelic loci were performed under the demographic model for European populations. Results and Discussion: We did not detect any genome-wide significant (p<5x10-8) autosomal common SNP differences between men and women in the meta-analysis. We also observed no frequency differences between men and women in our simulation of 1.3 million common loci in a cohort matching the study sample. Conclusion: This large-scale investigation across ~115, 000 individuals shows no detectable contribution from common genetic variants to the observed skew in sex ratio. The absence of sex-specific differences is useful in guiding genetic association study design, for example when using mixed controls for sex-biased traits.

male; female; sex ratio; common-allele; genome-wide scan; meta-analysis

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