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GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways.
López-Isac E, Acosta-Herrera M, Kerick M, Assassi S, Satpathy AT, Granja J, Mumbach MR, Beretta L, Simeón CP, Carreira P, Ortego-Centeno N, Castellvi I, Bossini-Castillo L, Carmona FD, Orozco G, Hunzelmann N, Distler JHW, Franke A, Lunardi C, Moroncini G, Gabrielli A, de Vries-Bouwstra J, Wijmenga C, Koeleman BPC, Nordin A, Padyukov L, Hoffmann-Vold AM, Lie B; European Scleroderma Group†; Proudman S, Stevens W, Nikpour M; Australian Scleroderma Interest Group (ASIG); Vyse T, Herrick AL, Worthington J, Denton CP, Allanore Y, Brown MA, Radstake TRDJ, Fonseca C, Chang HY, Mayes MD, Martin J. López-Isac E, et al. Nat Commun. 2019 Oct 31;10(1):4955. doi: 10.1038/s41467-019-12760-y. Nat Commun. 2019. PMID: 31672989 Free PMC article.
A TNFSF13B functional variant is not involved in systemic sclerosis and giant cell arteritis susceptibility.
González-Serna D, Carmona EG, Ortego-Centeno N, Simeón CP, Solans R, Hernández-Rodríguez J, Tolosa C, Castañeda S, Narváez J, Martinez-Valle F; European GCA Consortium; European Scleroderma Group; Witte T, Neumann T, Holle J, Beretta L, Boiardi L, Emmi G, Cimmino MA, Vaglio A, Herrick AL, Denton CP, Salvarani C, Cid MC, Morgan AW, Fonseca C, González-Gay MA, Martín J, Márquez A. González-Serna D, et al. PLoS One. 2018 Dec 26;13(12):e0209343. doi: 10.1371/journal.pone.0209343. eCollection 2018. PLoS One. 2018. PMID: 30586461 Free PMC article.