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Letter

Nature Genetics 40, 211–216 (1 February 2008) | doi:10.1038/ng.79

Functional variants in the B-cell gene BANK1 are associated with systemic lupus erythematosus

Sergey V Kozyrev , Anna-Karin Abelson , Jerome Wojcik , Ammar Zaghlool , M V Prasad Linga Reddy , Elena Sanchez , Iva Gunnarsson , Elisabet Svenungsson , Gunnar Sturfelt , Andreas J|[ouml]|nsen , Lennart Truedsson , Bernardo A Pons-Estel , Torsten Witte , Sandra D'Alfonso , Nadia Barrizzone , Maria Giovanna Danieli , Carmen Gutierrez , Ana Suarez , Peter Junker , Helle Laustrup , Maria Francisca Gonz|[aacute]|lez-Escribano , Javier Martin , Hadi Abderrahim & Marta E Alarc|[oacute]|n-Riquelme

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.