Expressive

rs11235604 - ATG16L2

Magnitude 2.2 · 2 studies on file

Reported associations

  • Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. - Nature genetics (2019) · Kanai M, Akiyama M, Takahashi A, Matoba N, Momozawa Y, Ikeda M, Iwata N, Ikegawa S, Hirata M, Matsuda K, Kubo M, Okada Y, Kamatani Y · PubMed 29403010

    Clinical measurements can be viewed as useful intermediate phenotypes to promote understanding of complex human diseases. To acquire comprehensive insights into the underlying genetics, here we conducted a genome-wide association study (GWAS) of 58 quantitative traits in 162,255 Japanese individuals. Overall, we identified 1,407 trait-associated loci (P < 5.0 × 10 ), 679 of which were novel. By incorporating 32 additional GWAS results for complex diseases and traits in Japanese individuals, we further highlighted pleiotropy, genetic correlations, and cell-type specificity across quantitative traits and diseases, which substantially expands the current understanding of the associated genetics and biology. This study identified both shared polygenic effects and cell-type specificity

  • Large scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases - Unknown journal (n.d.) · Unknown authors · PubMed 32514122

    ABSTRACT: The overwhelming majority of participants in current genetic studies are of European ancestry. To elucidate disease biology in the East Asian population, we conducted a genome-wide association study (GWAS) with 212,453 Japanese individuals across 42 diseases. We detected 320 independent signals in 276 loci for 27 diseases, with 25 novel loci (P < 9.58 x 10−9). East Asian-specific missense variants were identified as candidate causal variants for three novel loci, and we successfully replicated two of them by analyzing independent Japanese cohorts; p.R220W of ATG16L2 associated with coronary artery disease and p.V326A of POT1 associated with lung cancer. We further investigated enrichment of heritability within 2,868 annotations of genome-wide transcription factor occupancy, and

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