Published in

Oxford University Press (OUP), International Journal of Epidemiology, 5(41), p. 1376-1382

DOI: 10.1093/ije/dys104

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Sex-specific differences in effect size estimates at established complex trait loci

This paper is made freely available by the publisher.
This paper is made freely available by the publisher.

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Abstract

BACKGROUND: Genetic differences between men and women may contribute to sex differences in prevalence and progression of many common complex diseases. Using the WTCCC GWAS, we analysed whether there are sex-specific differences in effect size estimates at 142 established loci for seven complex diseases: rheumatoid arthritis, type 1 diabetes (T1D), Crohn's disease, type 2 diabetes (T2D), hypertension, coronary artery disease and bipolar disorder. METHODS: For each Single nucleotide polymorphism (SNP), we calculated the per-allele odds ratio for each sex and the relative odds ratios (RORs; the effect size is higher in men with ROR greater than one). RORs were then meta-analysed across loci within each disease and across diseases. RESULTS: For each disease, summary RORs were not different from one, but there was between-SNP heterogeneity in the RORs for T1D and T2D. Four loci in T1D, three in Crohn's disease and three in T2D showed differences in the genetic effect between men and women (P