Article
Defining genetic risk factors for scleroderma-associated interstitial lung disease : IRF5 and STAT4 gene variants are associated with scleroderma while STAT4 is protective against scleroderma-associated interstitial lung disease.
Clinical rheumatology - 1 Apr 2020
Stock Carmel J W, De Lauretis Angelo, Visca Dina, Daccord Cecile, Kokosi Maria, Kouranos Vasilis, Margaritopoulos George, George Peter M, Molyneaux Philip L, Nihtyanova Svetlana, Chua Felix, Maher Toby M, Ong Voon, Abraham David J, Denton Christopher P, Wells Athol U, Wain Louise V, Renzoni Elisabetta A
Abstract excerpt
Although several genetic associations with scleroderma (SSc) are defined, very little is known on genetic susceptibility to SSc-associated interstitial lung disease (SSc-ILD). A number of common polymorphisms have been associated with SSc-ILD, but most have not been replicated in separate populations. Four SNPs in IRF5, and one in each of STAT4, CD226 and IRAK1, selected as having been previously the most...
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