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Unraveling the genetics of complex diseases: Susceptibility genes for rheumatoid arthritis and psoriasis

期刊

SEMINARS IN IMMUNOLOGY
卷 21, 期 6, 页码 318-327

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ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD
DOI: 10.1016/j.smim.2009.04.002

关键词

Autoimmunity; Ethnic heterogeneity; Genetic risk; Human leukocyte antigen (HLA); Linkage disequilibrium (LD); Major histocompatibility complex (MHC); Pleiotropy; Psoriasis; Rheumatoid arthritis (RA); Genome-wide association studies

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Talk of numerous genetic risk factors for rheumatoid arthritis (RA) and psoriasis has been percolating for years, but with the exception of the human leukocyte antigen (HLA) region, none have been definitively identified. Recently the results of multiple, well powered, genetic case-control studies have begun to appear providing convincing statistical evidence for at least ten non-HLA related risk genes or loci (C5/TRAF1, CD40, CTIA4, KIF5A/PIP4K2C, MMEL1/TNFRSF14, PAD14, PRKCQ, PTPN22, STAT4, and TNFAIP3/OLIG3) for RA and six (IL12B, IL13, IL23R, STAT2/IL23A, TNFAIP3, and TNIP1) for psoriasis. These initial, novel findings are beginning to shed light on the molecular pathways pertinent to the individual diseases and highlight the pleiotropic effects of several risk factors as well as the allelic heterogeneity underlying susceptibility to these and other autoimmune diseases. (C) 2009 Elsevier Ltd. All rights reserved.

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