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Chunk #57 — METHODS — Overlap of common ADHD risk variants with rare protein-truncating variants (rPTVs).

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Genome-wide analyses of ADHD identify 27 risk loci, refine the genetic architecture and implicate several cognitive domains.
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We tested for increased burden of rPTVs in ADHD compared to controls in three gene sets: (1) the 76 genes linked to credible variants based on position and functional genomic data, (2) the 45 exome-wide significant genes identified in MAGMA analysis, and (3) genes with at least five credible variants within the coding regions. The requirement of five credible variants was chosen to prioritize the most likely causal genes. This threshold excluded eight genes located in the same locus covering a broad LD region on chromosome 3 (Supplementary Data 1; page 25). Additionally, two other genes with less than five credible variants were excluded located in two other loci on chromosome 3.