期刊
GENES AND IMMUNITY
卷 9, 期 3, 页码 187-194出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2008.4
关键词
SLE; African Americans; IRF5; genetic association
资金
- NATIONAL CENTER FOR RESEARCH RESOURCES [P20RR015577, M01RR000052, M01RR000032, M01RR000048, P20RR020143] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES [R21AI053747, R01AI031584, U19AI062629, R01AI024717, R37AI024717] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF ARTHRITIS AND MUSCULOSKELETAL AND SKIN DISEASES [R01AR033062, P30AR053483, T32AR007450, R01AR042460, N01AR012253, P60AR048098, P01AR049084, R55AR043727, R01AR043727, K24AR002138, R01AR042476] Funding Source: NIH RePORTER
- NATIONAL INSTITUTE OF DENTAL &CRANIOFACIAL RESEARCH [R01DE015223] Funding Source: NIH RePORTER
- NCRR NIH HHS [RR15577, MO1-RR00032, MO1-RR00048, RR20143, M01-RR00052] Funding Source: Medline
- NIAID NIH HHS [AI24717, AI31584, AI62629, AI53747] Funding Source: Medline
- NIAMS NIH HHS [AR43727, T32-AR07450, P30 AR053483, AR12253, P01-AR49084, K24-AR02138, AR42460, P60-AR48098, R01 AR033062, AR42476, AR33062] Funding Source: Medline
- NIDCR NIH HHS [DE15223] Funding Source: Medline
Increased expression of interferon (IFN)-inducible genes is implicated in the pathogenesis of systemic lupus erythematosus (SLE). One transcription factor responsible for regulating IFN, interferon regulatory factor-5 (IRF5), has been associated with SLE in genetic studies of Asian, Caucasian and Hispanic populations. We genotyped up to seven polymorphic loci in or near IRF5 in a total of 4870 African-American and Caucasian subjects ( 1829 SLE sporadic cases and 3041 controls) from two independent studies. Population-based case-control comparisons were performed using the Pearson's x(2)-test statistics and haplotypes were inferred using Haplo View. We observed significant novel associations with the IRF5 variants rs2004640 and rs3807306 in African Americans and replicated previously reported associations in Caucasians. While we identified risk haplotypes, the majority of haplotypic effects were accounted for by one SNP ( rs3807306) in conditional analyses. We conclude that genetic variants of IRF5 associate with SLE in multiple populations, providing evidence that IRF5 is likely to be a crucial component in SLE pathogenesis among multiple ethnic groups.
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