Fig. 3: Meta-analysis of SPARKMC-SCA and iPSYCH-SCA.

The ASD risk estimates from the SPARKMC-SCA and iPSYCH-SCA studies were meta-analyzed for each comparison shown. A Forest plot shows ASD risk associated with 47,XXY or 47,XYY relative to a 46,XY reference. B Forest plot shows ASD risk associated with 47,XXX or 47,XXY relative to a 46,XX reference. Brackets indicate the results of comparisons between extra Y and extra X effect sizes from the meta-analysis. Colors identify whether the odds ratio resulted from analyses from the SPARKMC-SCA cohort alone (red), the iPSYCH-SCA cohort alone (blue), or from meta-analyzing both results together (black). Red and blue points denote odds ratio calculated from logistic regression analyses and error bars represent the associated 95% confidence intervals. Black points denote effect sizes calculated from each meta-analysis (Meta) using a fixed-effects model in metafor, and error bars represent the associated 95% confidence intervals. Asterisks denote level of statistical significance for each 2-sided test, adjusted using Benjamini-Hochberg false discovery rate correction (Adj. p), and are shown only for meta-analysis results. Adjusted p-values for all comparisons are shown in Tables S9 and S10 in the Supplement. Sample sizes used to derive statistics for each sex chromosome complement in the SPARKMC-SCA cohort are as follows: 46, XX, 98,277; 46, XY, 78,790; 47, XXY, 125; 47, XYY, 94; 47, XXX, 86. Sample sizes used to derive statistics for each sex chromosome complement in the iPSYCH-SCA cohort are as follows: 46, XX, 26,524; 46, XY, 38,114; 47, XXY, 87; 47, XYY, 89; 47, XXX, 28. Source data are provided as a Source Data file.