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Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus by Kenneth M. Kaufman; Jennifer A. Kelly; Billy J. Herring; Adam J. Adler; Stuart B. Glenn; Bahram Namjou; Summer G. Frank; Sarah L. Dawson; Gail R. Bruner; Judith A. James; John B. Harley is a Medicine article available to read on EtoBox.

## Abstract ## Objective The R620W (1858C→T) polymorphism in __PTPN2__2 has been implicated in type 1 diabetes mellitus, rheumatoid arthritis, Graves' disease, Hashimoto thyroiditis, autoimmune thyroid disease, and systemic lupus erythematosus (SLE). The aim of this study was to evaluate this polymorphism in patients with familial SLE and in those with sporadic SLE. ## Methods A total of 4,981 DNA samples were genotyped (from 1,680 SLE patients, 1,834 family members, and 1,467 controls). Both population‐based case–control and family‐based association designs were used for the analyses. ## Results In the European American familial SLE cohort, the minor 1858T allele was more common in randomly selected patients compared with controls (χ^2^ = 5.61, __P__ = 0.018, odds ratio [OR] 1.46, 95% confidence interval [95% CI] 1.07–1.99). The heterozygous C/T genotype was also more common in these European American patients compared with controls (OR 1.63, 95% CI 1.15–2.30). Family‐based association tests showed preferential transmission of the 1858T allele to affected offspring (χ^2^ = 5.87, __P__ = 0.015). In contrast, the frequency of the 1858T minor allele was not significantly increased in

Author

Kenneth M. Kaufman; Jennifer A. Kelly; Billy J. Herring; Adam J. Adler; Stuart B. Glenn; Bahram Namjou; Summer G. Frank; Sarah L. Dawson; Gail R. Bruner; Judith A. James; John B. Harley

Publisher

John Wiley and Sons; Wiley (John Wiley & Sons); John Wiley & Sons Inc.; Wiley (ISSN 0004-3591)

Published

2006

Language

EN

Field

Medicine (Health Sciences)