rs10152544 - SMAD3

Magnitude 2.2 · 1 study on file

Reported associations

  • Eight novel susceptibility loci and putative causal variants in atopic dermatitis. - The Journal of allergy and clinical immunology (2021) · Tanaka N, Koido M, Suzuki A, Otomo N, Suetsugu H, Kochi Y, Tomizuka K, Momozawa Y, Kamatani Y, Ikegawa S, Yamamoto K, Terao C · PubMed 34116867

    Atopic dermatitis (AD) is the most common allergic disease in the world. While genetic components play critical roles in its pathophysiology, a large proportion of its genetic background is still unexplored. This study sought to illuminate the genetic associations with AD using genome-wide association study (GWAS) and its downstream analyses. This study conducted a GWAS for AD comprising 2,639 cases and 115,648 controls in the Japanese population, followed by a trans-ethnic meta-analysis with UK Biobank data and downstream analyses including partitioning heritability analysis by linkage disequilibrium score regression. This study identified 17 significant susceptibility loci, among which 4 loci-AFF1, ITGB8, EHMT1, and EGR2-were novel in the Japanese GWAS. The trans-ethnic meta-analysis rev


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Lifestyle context

Concrete actions anchored to the cited research. We do not prescribe, we describe.

Discuss with your doctor

  • genetic risk for atopic dermatitis High

    Genetic variant confers increased susceptibility to atopic dermatitis, a clinically actionable condition

    Discuss genetic risk and available prevention strategies with dermatologist or primary care provider

Screening

  • atopic dermatitis symptoms and signs High

    SMAD3 variant significantly associated with increased atopic dermatitis risk via TGF-beta signaling

    Perform skin examination at preventive health visits; discuss concerns with dermatologist if symptoms develop