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Chunk #2 — Genome-wide association studies on ASDs

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Common genetic variants on 5p14.1 associate with autism spectrum disorders.
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performed a combined analysis of these two independent data sets using recommended meta-analysis approaches24. From examining autosomes and the X chromosome, one SNP located on 5p14.1 reached genome-wide significance (rs4307059, P = 3.4 × 10−8), and five further SNPs at the same locus had Pvalues below 1 × 10−4 (Table 2 and Fig. 1a). Several other loci contain SNPs with suggestive association signals (Table 3), such as 13q33.3 (near MYO16 (myosin XVI)), 14q21.1 (between FBXO33 (F-box protein 33) and LRFN5 (leucine rich repeat and fibronectin type III domain containing 5)) and Xp22.32 (between PRKX (protein kinase, X-linked) and NLGN4X (neuroligin 4, X-linked)). We also analysed ten markers on the Y chromosome in the ACC cohort, with the most significant SNP being rs2032597 (P = 1.1 × 10−4) located within USP9Y (ubiquitin specific protease 9, Y-linked) (Supplementary Table 1). Furthermore, we have analysed 15 markers in pseudoautosomal regions of sex chromosomes in the two discovery cohorts, but no markers showed evidence of association (Supplementary Table 2).