title: A polymorphism within IL21R confers risk for systemic lupus erythematosus.
abstract: 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=1.0x10(-4)).
  
  
  CONCLUSIONS
  Our findings indicate that IL21R is a novel susceptibility gene for SLE.
authors: Oklahoma Medical Research Foundation, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
authors: Ryan
authors: R
authors: Webb
authors: Joan T
authors: JT
authors: Merrill
authors: Jennifer A
authors: JA
authors: Kelly
authors: Andrea
authors: A
authors: Sestak
authors: Kenneth M
authors: KM
authors: Kaufman
authors: Carl D
authors: CD
authors: Langefeld
authors: Julie
authors: J
authors: Ziegler
authors: Robert P
authors: RP
authors: Kimberly
authors: Jeffrey C
authors: JC
authors: Edberg
authors: Rosalind
authors: R
authors: Ramsey-Goldman
authors: Michelle
authors: M
authors: Petri
authors: John D
authors: JD
authors: Reveille
authors: Graciela S
authors: GS
authors: Alarcón
authors: Luis M
authors: LM
authors: Vilá
authors: Marta E
authors: ME
authors: Alarcón-Riquelme
authors: Judith A
authors: JA
authors: James
authors: Gary S
authors: GS
authors: Gilkeson
authors: Chaim O
authors: CO
authors: Jacob
authors: Kathy L
authors: KL
authors: Moser
authors: Patrick M
authors: PM
authors: Gaffney
authors: Timothy J
authors: TJ
authors: Vyse
authors: Swapan K
authors: SK
authors: Nath
authors: Peter
authors: P
authors: Lipsky
authors: John B
authors: JB
authors: Harley
authors: Amr H
authors: AH
authors: Sawalha
mesh_terms: D005260:Female; D020022:Genetic Predisposition to Disease; D006630:Hispanic or Latino / Q000208:ethnology / Q000235:genetics; D006801:Humans; D053738:Interleukin-21 Receptor alpha Subunit / Q000235:genetics*; D015810:Linkage Disequilibrium / Q000235:genetics; D008180:Lupus Erythematosus, Systemic / Q000208:ethnology / Q000235:genetics*; D008297:Male; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D044465:White People / Q000208:ethnology / Q000235:genetics
chemical_list: C508117:IL21R protein, human; D053738:Interleukin-21 Receptor alpha Subunit