Extended Data Figure 2. Female- and male-specific effects, phenotypic variances, and genetic correlations.
a, Figure showing effect beta estimates for the 20 WHRadjBMI SNPs showing significant evidence of sexual dimorphism. Sex-specific effect betas and 95% confidence intervals for SNPs associated with waist-hip ratio adjusted for body mass index (WHRadjBMI) are shown as red circles and blue squares for women and men, respectively. The SNPs are classified into three categories: (i) those showing a female-specific effect (“Women SSE”), namely a significant effect in women and no effect in men (Pwomen < 5 × 10−8, Pmen ≥ 0.05), (ii) those showing a pronounced female effect (“Women CED”), namely a significant effect in women and a less significant but directionally consistent effect in men (Pwomen < 5 × 10−8, 5 × 10−8 < Pmen ≤ 0.05); and (iii) those showing a male-specific effect (“Men SSE”), namely a significant effect in men and no effect in women (Pmen < 5 × 10−8, Pwomen ≥ 0.05). Within each of the three categories, the loci were sorted by increasing P value of sex-based heterogeneity in the effect betas. b, Figure showing standardized sex-specific phenotypic variance components for six waist-related traits. Values are shown in men (M) and women (W) from the Swedish Twin Registry (N = 11,875). The ACE models are decomposed into additive genetic components (A) shown in black, common environmental components (C) in gray, and non-shared environmental components (E) in white. Components are shown for waist circumference (WC), hip circumference (HIP), waist-hip ratio (WHR), and their body mass index (BMI)-adjusted counterparts (WCadjBMI, HIPadjBMI, and WHRadjBMI). When the A component is different in men and women with P < 0.05 for a given trait, its name is marked with an asterisk. c, Table showing genetic correlations of waist-related traits with height, adjusted for age and body mass index. Genetic correlations of three traits with height were based on variance component models in the Framingham Heart Study and TWINGENE study (see Online Methods). WCadjBMI, waist circumference adjusted for BMI; WHRadjBMI, waist-hip ratio adjusted for BMI; HIPadjBMI, hip circumference adjusted for BMI.