rs112872175 - WDR45B, FOXK2
Magnitude 2.8 · 1 study on file
Reported associations
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A genome-wide meta-analysis of palmoplantar pustulosis implicates T 2 responses and cigarette smoking in disease pathogenesis. - The Journal of allergy and clinical immunology (2024) · Hernandez-Cordero A, Thomas L, Smail A, Lim ZQ, Saklatvala JR, Chung R, Curtis CJ, Baum P, Visvanathan S, Burden AD, Cooper HL, Dunnill G, Griffiths CEM, Levell NJ, Parslew R, Reynolds NJ, Wahie S, Warren RB, Wright A, Simpson M, Hveem K, Barker JN, Dand N, Løset M, Smith CH, Capon F · PubMed 38815935
Palmoplantar pustulosis (PPP) is an inflammatory skin disorder that mostly affects smokers and manifests with painful pustular eruptions on the palms and soles. Although the disease can present with concurrent plaque psoriasis, TNF and IL-17/IL-23 inhibitors show limited efficacy. There is therefore a pressing need to uncover PPP disease drivers and therapeutic targets. We sought to identify genetic determinants of PPP and investigate whether cigarette smoking contributes to disease pathogenesis. We performed a genome-wide association meta-analysis of 3 North-European cohorts (n = 1,456 PPP cases and 402,050 controls). We then used the scGWAS program to investigate the cell-type specificity of the association signals. We also undertook genetic correlation analyses to examine the similarit
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Lifestyle context
Concrete actions anchored to the cited research. We do not prescribe, we describe.
Discuss with your doctor
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palmoplantar pustulosis genetic risk and baseline screening Moderate
Genetic variant causes reduced WDR45B expression in skin and other tissues, associated with increased palmoplantar pustulosis risk
Discuss with dermatologist and establish baseline skin examination for early detection