Article
CSK regulatory polymorphism is associated with systemic lupus erythematosus and influences B-cell signaling and activation.
Nature genetics - 1 Nov 2012
Manjarrez-Orduño Nataly, Marasco Emiliano, Chung Sharon A, Katz Matthew S, Kiridly Jenna F, Simpfendorfer Kim R, Freudenberg Jan, Ballard David H, Nashi Emil, Hopkins Thomas J, Cunninghame Graham Deborah S, Lee Annette T, Coenen Marieke J H, Franke Barbara, Swinkels Dorine W, Graham Robert R, Kimberly Robert P, Gaffney Patrick M, Vyse Timothy J, Behrens Timothy W, Criswell Lindsey A, Diamond Betty, Gregersen Peter K
Abstract excerpt
The c-Src tyrosine kinase, Csk, physically interacts with the intracellular phosphatase Lyp (encoded by PTPN22) and can modify the activation state of downstream Src kinases, such as Lyn, in lymphocytes. We identified an association of CSK with systemic lupus erythematosus (SLE) and refined its location to the intronic polymorphism rs34933034 (odds ratio (OR) = 1.32; P = 1.04 × 10(-9)). The risk allele at this...
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