Genomewide Scan Reveals Association of Psoriasis with IL-23 and NF-κB Pathways
By R. Nair, K. Duffin, C. Helms, Jun Ding, P. Stuart, D. Goldgar, J. Gudjonsson, Yun Li, T. Tejasvi, B. Feng and 20 more. Nature Genetics, 2009
1,200 citations recorded by the source corpus.
Psoriasis is a common immune-mediated disorder that affects the skin, nails and joints. To identify psoriasis susceptibility loci, we genotyped 438,670 SNPs in 1,409 psoriasis cases and 1,436 controls of European ancestry. We followed up 21 promising SNPs in 5,048 psoriasis cases and 5,041 controls. Our results provide strong support for the association of at least seven genetic loci and psoriasis (each with combined P < 5 × 10−8). Loci with confirmed association include HLA-C, three genes involved in IL-23 signaling (IL23A, IL23R, IL12B), two genes that act downstream of TNF-α and regulate NF-κB signaling (TNIP1, TNFAIP3) and two genes involved in the modulation of Th2 immune responses (IL4, IL13). Although the proteins encoded in these loci are known to interact biologically, we found no evidence for epistasis between associated SNPs. Our results expand the catalog of genetic loci implicated in psoriasis susceptibility and suggest priority targets for study in other auto-immune disorders.
Subfields: Dermatology, Immunology, Physiology
View Paper: https://www.semanticscholar.org/paper/270b8138795b3077d6371be2f2ad6037e2697f06
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Citations in the corpus
- Variation in the human immune system is largely driven by non-heritable influences (2015, background): “Interestingly, variants in the IL12B gene that contribute to the IL-12p40 protein have been associated with immune-mediated diseases such as psoriasis (Nair et al., 2009) and asthma (Morahan et al.”
- JAK and STAT signaling molecules in immunoregulation and immune-mediated disease. (2012, background): “One of the first variants to be identified was a nonsynonymous variant of the IL-23R (Arg381Gln) (Duerr et al., 2006), which is associated with reduced risk of inflammatory bowel disease (IBD), psoriasis (Cargill et al., 2007; Nair et al., 2009), and ankylosing spondylitis (Burton et al., 2007).”
- Circulating Th17, Th22, and Th1 Cells Are Increased in Psoriasis (2009, background): “This genetic tendency could be regulated, at least in part, by polymorphisms in IL-23p19, IL-12/23p40, and IL-23R (Nair et al., 2009).”