Region around rs7318041 (250kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 13).įigure S9. Region around rs325506 (250 kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 5).įigure S8. Region around rs4916723 (250kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 5).įigure S7. Region around rs1222063 (250kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 1).įigure S6. Region around rs2391769 (250 kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 1).įigure S5. Region around rs6584649 and rs11591402 (250 kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 10).įigure S4. Region around rs6047310 (250 kb around the SNP) in ADHD (upper figure) and ASD (lower figure) GWAS (chr = 20).įigure S3. Conceptual framework of colocalization analysis.įigure S2.

Jcpp1347-Supinfo.docxWord document, 2.9 MBįigure S1.

Further functional investigation of genes mapped to those shared variants may help identify pathophysiological pathways and new targets for treatment. Using multivariate genomic analyses, the present study uncovers shared and specific genetic variants associated with ASD and ADHD. Our bidirectional Mendelian randomization analyses indicated that the risk of ASD was associated with an increased risk of ADHD and vice versa. We identified genes mapped to SNPs that are specific to ASD or ADHD and that are shared by ASD and ADHD, including two novel genes INSM1 and PAX1. We found that 37.5% of the SNPs associated with ASD (at p < 1e-6) colocalized with ADHD SNPs and that 19.6% of the SNPs associated with ADHD colocalized with ASD SNPs. Finally, we performed a bidirectional Mendelian randomization analysis to test whether the shared genetic risk between ASD and ADHD was interpretable in terms of reciprocal relationships between ASD and ADHD. Functional genomic analyses were then conducted on shared and specific common genetic variants. With the summary data from two GWAS, one on ASD ( N = 46,350) and another on ADHD ( N = 55,374) individuals, we used genomic structural equation modelling and colocalization analysis to identify SNPs shared by ASD and ADHD and SNPs specific to each disorder. single nucleotide polymorphisms, SNPs) shared by ASD and ADHD, and those specific to each disorder. We conducted genomic analyses of common risk variants (i.e. Several lines of evidence point towards the presence of shared genetic factors underlying ASD and ADHD. Attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD) are two highly heritable neurodevelopmental disorders.

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