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)). CONCLUSION: Our findings indicate that IL21R is a novel susceptibility gene for SLE.
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 lupuspatients and in some murinelupus 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 lupuspatients (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)). CONCLUSION: Our findings indicate that IL21R is a novel susceptibility gene for SLE.
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Authors: Carola G Vinuesa; Matthew C Cook; Constanza Angelucci; Vicki Athanasopoulos; Lixin Rui; Kim M Hill; Di Yu; Heather Domaschenz; Belinda Whittle; Teresa Lambe; Ian S Roberts; Richard R Copley; John I Bell; Richard J Cornall; Christopher C Goodnow Journal: Nature Date: 2005-05-26 Impact factor: 49.962
Authors: Shizhong Han; Xana Kim-Howard; Harshal Deshmukh; Yoichiro Kamatani; Parvathi Viswanathan; Joel M Guthridge; Kenaz Thomas; Kenneth M Kaufman; Joshua Ojwang; Adriana Rojas-Villarraga; Vicente Baca; Lorena Orozco; Benjamin Rhodes; Chan-Bum Choi; Peter K Gregersen; Joan T Merrill; Judith A James; Patrick M Gaffney; Kathy L Moser; Chaim O Jacob; Robert P Kimberly; John B Harley; Sang-Choel Bae; Juan-Manuel Anaya; Marta E Alarcón-Riquelme; Koichi Matsuda; Timothy J Vyse; Swapan K Nath Journal: Hum Mol Genet Date: 2009-01-06 Impact factor: 6.150
Authors: Wanling Yang; Nan Shen; Dong-Qing Ye; Qiji Liu; Yan Zhang; Xiao-Xia Qian; Nattiya Hirankarn; Dingge Ying; Hai-Feng Pan; Chi Chiu Mok; Tak Mao Chan; Raymond Woon Sing Wong; Ka Wing Lee; Mo Yin Mok; Sik Nin Wong; Alexander Moon Ho Leung; Xiang-Pei Li; Yingyos Avihingsanon; Chun-Ming Wong; Tsz Leung Lee; Marco Hok Kung Ho; Pamela Pui Wah Lee; Yuk Kwan Chang; Philip H Li; Ruo-Jie Li; Lu Zhang; Wilfred Hing Sang Wong; Irene Oi Lin Ng; Chak Sing Lau; Pak Chung Sham; Yu Lung Lau Journal: PLoS Genet Date: 2010-02-12 Impact factor: 5.917