Carriers of rare missense variants in IFIH1 are protected from psoriasis

Journal of Investigative Dermatology

Volumn 130, Issue 12, 2010, Pages 2768-2772

  Li, Yonghong ^a   Liao, Wilson ^b   Cargill, Michele ^a,e   Chang, Monica ^a   Matsunami, Nori ^c   Feng, Bing Jian ^c   Poon, Annie ^b   Callis Duffin, Kristina P ^c   Catanese, Joseph J ^a   Bowcock, Anne M ^d   Leppert, Mark F ^c   Kwok, Pui Yan ^b   Krueger, Gerald G ^c   Begovich, Ann B ^a,f  

^a CELERA   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^d WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^e Navigenics Inc   (United States)

^f Roche Diagnostics   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEIN IFIH1; UNCLASSIFIED DRUG;

ALLELE; ARTICLE; CONTROLLED STUDY; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; PRIORITY JOURNAL; PSORIASIS; SINGLE NUCLEOTIDE POLYMORPHISM;

EID: 78149470326     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2010.214     Document Type: Article

References (37)

1. Anderegg U, Breitschwerdt K, Kohler MJ et al. (2005) MEL4B3, a novel mRNA is induced in skin tumors and regulated by TGF-beta and pro-inflammatory cytokines. Exp Dermatol 14:709-18
2. Besch R, Poeck H, Hohenauer T et al. (2009) Proapoptotic signaling induced by RIG-I and MDA-5 results in type I interferon-independent apoptosis in human melanoma cells. J Clin Invest 119:2399-411
3. Bowcock AM, Krueger JG (2005) Getting under the skin: the immunogenetics of psoriasis. Nat Rev Immunol 5:699-711
4. Campalani E, Barker JNWN (2005) The clincal genetics of psoriasis. Curr Genomics 6:51-60
5. Capon F, Bijlmakers MJ, Wolf N et al. (2008) Identification of ZNF313/RNF114 as a novel psoriasis susceptibility gene. Hum Mol Genet 17:1938-45
6. Cargill M, Schrodi SJ, Chang M et al. (2007) A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet 80:273-390
7. Chang M, Li Y, Yan C et al. (2008) Variants in the 5q31 cytokine gene cluster are associated with psoriasis. Genes Immun 9:176-81
8. Couturier N, Gourraud PA, Cournu-Rebeix I et al. (2009) IFIH1-GCA-KCNH7 locus is not associated with genetic susceptibility to multiple sclerosis in French patients. Eur J Hum Genet 17:844-7
9. De Cid R, Riveira-Munoz E, Zeeuwen PL et al. (2009) Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet 41:211-5
10. Enevold C, Oturai AB, Sorensen PS et al. (2009) Multiple sclerosis and polymorphisms of innate pattern recognition receptors TLR1-10, NOD1-2, DDX58, and IFIH1. J Neuroimmunol 212:125-31
11. Fan X, Yang S, Huang W et al. (2008) Fine mapping of the psoriasis susceptibility locus PSORS1 supports HLA-C as the susceptibility gene in the Han Chinese population. PLoS Genet 4:e1000038
12. Fry L, Baker BS (2007) Triggering psoriasis: the role of infections and medications. Clin Dermatol 25:606-15
13. Gateva V, Sandling JK, Hom G et al. (2009) A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41:1228-33
14. Hollox EJ, Huffmeier U, Zeeuwen PL et al. (2008) Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet 40: 23-5
15. Kang DC, Gopalkrishnan RV, Wu Q et al. (2002) mda-5: An interferon-inducible putative RNA helicase with double-stranded RNA-dependent ATPase activity and melanoma growth-suppressive properties. Proc Natl Acad Sci USA 99:637-42
16. Kato H, Takeuchi O, Sato S et al. (2006) Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature 441:101-5
17. Lesueur F, Oudot T, Heath S et al. (2007) ADAM33, a new candidate for psoriasis susceptibility. PLoS ONE 2:e906
18. Li Y, Begovich AB (2009) Unraveling the genetics of complex diseases: susceptibility genes for rheumatoid arthritis and psoriasis. Semin Immunol 21:318-27
19. Li Y, Liao W, Chang M et al. (2009) Further genetic evidence for three psoriasis risk genes: ADAM33, CDKAL1 and PTPN22. J Invest Dermatol 129:629-34
20. Liu S, Wang H, Jin Y et al. (2009) IFIH1 polymorphisms are significantly associated with type 1 diabetes and IFIH1 gene expression in peripheral blood mononuclear cells. Hum Mol Genet 18:358-65
21. Liu Y, Helms C, Liao W et al. (2008) A genome-wide association study of psoriasis and psoriatic arthritis identifies new disease Loci. PLoS Genet 4:e1000041
22. Marinou I, Montgomery DS, Dickson MC et al. (2007) The interferon induced with helicase domain 1 A946T polymorphism is not associated with rheumatoid arthritis. Arthritis Res Ther 9:R40
23. Martinez A, Santiago JL, Cenit MC et al. (2008) IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur J Hum Genet 16:861-4
24. Nair RP, Duffin KC, Helms C et al. (2009) Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet 41:199-204
25. Nair RP, Stuart PE, Nistor I et al. (2006) Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet 78:827-51
26. Nejentsev S, Walker N, Riches D et al. (2009) Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324:387-9
27. Nestle FO, Kaplan DH, Barker J (2009) Psoriasis. N Engl J Med 361: 496-509
28. Penna-Martinez M, Ramos-Lopez E, Robbers I et al. (2009) The rs1990760 polymorphism within the IFIH1 locus is not associated with Graves' disease, Hashimoto's thyroiditis and Addison's disease. BMC Med Genet 10:126
29. Prens EP, Kant M, van Dijk G et al. (2008) IFN-alpha enhances poly-IC responses in human keratinocytes by inducing expression of cytosolic innate RNA receptors: relevance for psoriasis. J Invest Dermatol 128:932-8
30. Smith RL, Warren RB, Griffiths CE et al. (2009) Genetic susceptibility to psoriasis: an emerging picture. Genome Med 1:72
31. Smyth DJ, Cooper JD, Bailey R et al. (2006) A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38:617-9
32. Smyth DJ, Plagnol V, Walker NM et al. (2008) Shared and distinct genetic variants in type 1 diabetes and celiac disease. N Engl J Med 359:2767-77
33. Sutherland A, Davies J, Owen CJ et al. (2007) Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. J Clin Endocrinol Metab 92:3338-41
34. Suzuki A, Yamada R, Chang X et al. (2003) Functional haplotypes of PADI4, encoding citrullinating enzyme peptidylarginine deiminase 4, are associated with rheumatoid arthritis. Nat Genet 34:395-402
35. Weir BS (1996) Genet Data Analysis II. Sunderland, MA: Sinauer
36. Wolf N, Quaranta M, Prescott N et al. (2008) Psoriasis is associated with pleiotropic susceptibility loci identified in Type II Diabetes and Crohn's disease. J Med Genet 45:114-6
37. Zhang XJ, Huang W, Yang S et al. (2009) Psoriasis genome-wide association study identifies susceptibility variants within LCE gene cluster at 1q21. Nat Genet 41:205-10