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Genomic risk score impact on susceptibility to systemic sclerosis

Annals of Rheumatic Diseases Oct 06, 2020

Bossini-Castillo L, Villanueva-Martin G, Kerick M, et al. - In this study, the performance of genomic risk scores (GRS) in the prognostication of risk for systemic sclerosis (SSc) was investigated for the first time. Researchers collected allelic effects from the largest SSc Genome-Wide Association Study to date (9 095 SSc and 17,584 healthy controls with European ancestry). They distinguished best-fitting GRS under the additive model in an independent cohort that comprised 400 patients with SSc and 571 controls. There was a successful implementation of GRS in SSc. The data revealed that the model discriminated between individuals with SSc and controls or other immune-mediated inflammatory diseases, validating the potential of GRS to support early and differential diagnosis for SSc.

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