Article
Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus.
Nature genetics - 1 Feb 2008
Kozyrev Sergey V, Abelson Anna-Karin, Wojcik Jerome, Zaghlool Ammar, Linga Reddy M V Prasad, Sanchez Elena, Gunnarsson Iva, Svenungsson Elisabet, Sturfelt Gunnar, Jönsen Andreas, Truedsson Lennart, Pons-Estel Bernardo A, Witte Torsten, D'Alfonso Sandra, Barizzone Nadia, Barrizzone Nadia, Danieli Maria Giovanna, Gutierrez Carmen, Suarez Ana, Junker Peter, Laustrup Helle, González-Escribano Maria Francisca, Martin Javier, Abderrahim Hadi, Alarcón-Riquelme Marta E
Abstract excerpt
Systemic lupus erythematosus (SLE) is a prototypical autoimmune disease characterized by production of autoantibodies and complex genetic inheritance. In a genome-wide scan using 85,042 SNPs, we identified an association between SLE and a nonsynonymous substitution (rs10516487, R61H) in the B-cell scaffold protein with ankyrin repeats gene, BANK1. We replicated the association in four independent case-control...
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