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J Rheumatol. 2009 Aug;36(8):1631-8. doi: 10.3899/jrheum.081160. Epub 2009 Jun 30.

Evidence for genetic association and interaction between the TYK2 and IRF5 genes in systemic lupus erythematosus.

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1
Department of Biosciences and Nutrition, Karolinska Institutet, Sweden.

Abstract

OBJECTIVE:

Several candidate genes have been implicated in susceptibility for systemic lupus erythematosus (SLE), a complex autoimmune disease. The proposed genes include members of the type I interferon (IFN) pathway and genes involved in immunological defense functions. Our aim was to systematically replicate 6 such genes, TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2.

METHODS:

Single-nucleotide polymorphisms in TYK2, IRF5, CTLA4, PDCD1, FCGR2A, and NOD2 were genotyped in 277 SLE patients and 356 healthy controls from Finland, giving a power of 42%-70% for different genes at published allele frequencies.

RESULTS:

Significant association was seen for rs2304256 (p = 0.0001) and rs12720270 (p = 0.0031) in TYK2 and rs10954213 (p = 0.0043) in IRF5 in our samples, but not for the other genes. We found evidence for genetic interaction (p = 0.014) between rs2304256 in TYK2 and rs10954213 in IRF5, both members of the type I IFN pathway, strengthening the role of the type I IFN pathway in the pathogenesis of SLE.

CONCLUSION:

The IFN pathway genes IRF5 and TYK2 may act epistatically in increasing risk for SLE, but our lack of replication does not exclude effects of the other genes studied.

PMID:
19567624
DOI:
10.3899/jrheum.081160
[Indexed for MEDLINE]
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