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Rheumatology Advance Access originally published online on June 14, 2007
Rheumatology 2007 46(8):1274-1276; doi:10.1093/rheumatology/kem093
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© The Author 2007. Published by Oxford University Press on behalf of the British Society for Rheumatology. All rights reserved. For Permissions, please email: journals.permissions@oxfordjournals.org

APRIL polymorphism and systemic lupus erythematosus (SLE) susceptibility

Y. H. Lee1, F. Ota2,3, X. Kim-Howard2,3, K. M. Kaufman2 and S. K. Nath2,3

1Division of Rheumatology, Department of Internal Medicine, Korea University Medical Center, College of Medicine, Korea University, Seoul, Korea, 2Arthritis and Immunology Research Program and 3Genetic Epidemiology Unit, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA.

Correspondence to: S. K. Nath, Arthritis and Immunology Research Program, Oklahoma Medical Research Foundation, 825 N.E. 13th Street, Oklahoma City, OK 73104, USA E-mail: swapan-nath{at}omrf.ouhsc.edu


  Abstract

Objective. Two novel non-synonymous polymorphisms of the APRIL gene, codon 67 (rs11552708) and 96 (rs3803800), were recently identified and tested for disease association. The 67G allele was reported to be associated with systemic lupus erythematosus (SLE) in a Japanese population. The aim of the study is to investigate whether the APRIL polymorphism associated with susceptibility to SLE in a Japanese population is associated with the susceptibility to SLE in other ethnic groups.

Methods. Three hundred and forty-eight SLE patients (204 European-American, 103 African-American and 41 Hispanic) and 345 ethnicity-matched controls (201 European-American, 104 African-American and 40 Hispanic) were included from the Lupus Multiplex Registry and Repository (LMRR) and evaluated for genetic association. The APRIL codon 67 and codon 96 were genotyped by a 3-base extension method. Statistical evaluations were performed using both chi-square and logistic regression analysis.

Results. Both the single-nucleotide polymorphisms (SNPs) were in Hardy–Weinberg equilibrium in cases and controls within each ethnic group. The APRIL codon 67 was significantly associated with SLE risk under the dominant model adjusted by ethnicity (odds ratio, 95% confidence interval and P-values were 1.45 and 1.02–2.06 and 0.036, respectively). Race-specific analysis also showed a trend for association in African-American and Hispanic SLE subjects.

Conclusion. The APRIL codon G67R polymorphism associated with SLE in a Japanese population may also be associated with SLE in other populations.

KEY WORDS: Systemic lupus erythematosus, APRIL, Polymorphisms

Submitted 11 September 2006; revised version accepted 21 March 2007.
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