Open AccessA polymorphism within IL21R confers risk for systemic lupus erythematosus
Author(s) -
Webb Ryan,
Merrill Joan T.,
Kelly Jennifer A.,
Sestak Andrea,
Kaufman Kenneth M.,
Langefeld Carl D.,
Ziegler Julie,
Kimberly Robert P.,
Edberg Jeffrey C.,
RamseyGoldman Rosalind,
Petri Michelle,
Reveille John D.,
Alarcón Graciela S.,
Vilá Luis M.,
AlarcónRiquelme Marta E.,
James Judith A.,
Gilkeson Gary S.,
Jacob Chaim O.,
Moser Kathy L.,
Gaffney Patrick M.,
Vyse Timothy J.,
Nath Swapan K.,
Lipsky Peter,
Harley John B.,
Sawalha Amr H.
Publication year - 2009
Publication title -
arthritis & rheumatism
Language(s) - English
Resource type - Journals
eISSN - 1529-0131
pISSN - 0004-3591
DOI - 10.1002/art.24658
Subject(s) - immunology , single nucleotide polymorphism , odds ratio , systemic lupus erythematosus , medicine , lupus erythematosus , genotype , antibody , biology , gene , genetics , disease
Objective Interleukin‐21 (IL‐21) is a member of the type I cytokine superfamily that has a variety of effects on the immune system, including B cell activation, plasma cell differentiation, and immunoglobulin production. The expression of IL‐21 receptor (IL‐21R) is reduced in the B cells of patients with systemic lupus erythematosus (SLE), while serum IL‐21 levels are increased both in lupus patients and in some murine lupus models. We recently reported that polymorphisms within the IL21 gene are associated with increased susceptibility to SLE. The aim of this study was to examine the genetic association between single‐nucleotide polymorphisms (SNPs) within IL21R and SLE. Methods We genotyped 17 SNPs in the IL21R gene in 2 large cohorts of lupus patients (a European‐derived cohort and a Hispanic cohort) and in ethnically matched healthy controls. Results We identified and confirmed the association between rs3093301 within the IL21R gene and SLE in the 2 cohorts (meta‐analysis odds ratio 1.16 [95% confidence interval 1.08–1.25], P = 1.0 × 10 −4 ). Conclusion Our findings indicate that IL21R is a novel susceptibility gene for SLE.