Multiple Functional Variants of IFIH1, a Gene Involved in Triggering Innate Immune Responses, Protect against Vitiligo

Journal of Investigative Dermatology

Volumn 137, Issue 2, 2017, Pages 522-524

  Jin, Ying ^a,b   Andersen, Genevieve H L ^a   Santorico, Stephanie A ^a,c   Spritz, Richard A ^a,b  

^a UNIVERSITY OF COLORADO SCHOOL OF MEDICINE   (United States)

^b University of Colorado Denver and Children s Hospital Colorado   (United States)

^c UNIVERSITY OF COLORADO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

FAP PROTEIN; GAMMA INTERFERON; GCA PROTEIN; GCG PROTEIN; INTERFERON INDUCED HELICASE C DOMAIN CONTAINING PROTEIN 1; KCNH7 PROTEIN; PROTEIN; RNA; UNCLASSIFIED DRUG; IFIH1 PROTEIN, HUMAN;

ARTICLE; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENETIC VARIABILITY; GENOTYPE; HAPLOTYPE; HEREDITY; HUMAN; INNATE IMMUNITY; PHENOTYPE; PRIORITY JOURNAL; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; VITILIGO; EPIDEMIOLOGY; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; IMMUNOLOGY; INCIDENCE; MALE; POLYMERASE CHAIN REACTION; PROCEDURES; PROGNOSIS; RISK ASSESSMENT;

FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENOME-WIDE ASSOCIATION STUDY; HAPLOTYPES; HUMANS; IMMUNITY, INNATE; INCIDENCE; INTERFERON-INDUCED HELICASE, IFIH1; MALE; POLYMERASE CHAIN REACTION; PROGNOSIS; RISK ASSESSMENT; VITILIGO;

EID: 85010332932     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1016/j.jid.2016.09.021     Document Type: Article

References (19)

1. Alkhateeb, A., Fain, P.R., Thody, A., Bennett, D.C., Spritz, R.A., Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res 16 (2003), 208–214.
2. Bentham, J., Morris, D.L., Cuninghame Graham, D.S., Pinder, C.L., Tombleson, P., Behrens, T.W., et al. Genetic association analyses implicate aberrant regulation of innate and adaptive immunity genes in the pathogenesis of systemic lupus erythematosus. Nat Genet 47 (2015), 1457–1464.
3. Cen, H., Wang, W., Leng, R.X., Wang, T.Y., Pan, H.F., Fan, Y.G., et al. Association of IFIH1 rs1990760 polymorphism with susceptibility to autoimmune diseases: a meta-analysis. Autoimmunity 46 (2013), 455–462.
4. Funabiki, M., Kato, H., Miyachi, Y., Toki, H., Motegi, H., Inoue, M., et al. Autoimmune disorders associated with gain of function of the intracellular sensor MDA5. Immunity 40 (2014), 199–212.
5. Gateva, V., Sandling, J.K., Hom, G., Taylor, K.E., Chung, S.A., Sun, X., et al. A large-scale replication study identifies TNIP1, PRDM1, JAZF1, UHRF1BP1 and IL10 as risk loci for systemic lupus erythematosus. Nat Genet 41 (2009), 1228–1233.
6. Hon, G.C., Hawkins, R.D., Ren, B., Predictive chromatin signatures in the mammalian genome. Hum Mol Genet 18 (2009), R195–R201.
7. Jin, Y., Andersen, G., Yorgov, D., Ferrara, T.M., Ben, S., Brownson, K.M., et al. Enhanced genome-wide association studies of autoimmune vitiligo identify 23 novel loci and highlight key pathobiological pathways and causal regulatory variation. [e-pub ahead of print] Nat Genet, 2016 http://dx.doi.org/10.1038/ng.3680.
8. Jin, Y., Birlea, S.A., Fain, P.R., Ferrara, T.M., Ben, S., Riccardi, S.L., et al. Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo. Nat Genet 44 (2012), 676–680.
9. Li, X., Lu, C., Stewart, M., Xu, H., Strong, R.K., Igumenova, T., et al. Structural basis of double-stranded RNA recognition by the RIG-I like receptor MDA5. Arch Biochem Biophys 488 (2009), 23–33.
10. Li, Y., Liao, W., Cargill, M., Chang, M., Matsunami, N., Feng, B.J., et al. Carriers of rare missense variants in IFIH1 are protected from psoriasis. J Invest Dermatol 130 (2010), 2768–2772.
11. Lincez, P.J., Shanina, I., Horwitz, M.S., Reduced expression of the MDA5 gene IFIH1 prevents autoimmune diabetes. Diabetes 64 (2015), 2184–2193.
12. Looney, B.M., Xia, C.Q., Concannon, P., Ostrov, D.A., Clare-Salzler, M.J., Effects of type 1 diabetes-associated IFIH1 polymorphisms on MDA5 function and expression. Curr Diab Rep 15 (2015), 96–106.
13. Molineros, J.E., Maiti, A.K., Sun, C., Looger, L.L., Han, S., Kim-Howard, X., et al. Admixture mapping in lupus identifies multiple functional variants within IFIH1 associated with apoptosis, inflammation, and autoantibody production. PLoS Genet, 9, 2013, e1003222.
14. Nejentsev, S., Walker, N., Riches, D., Egholm, M., Todd, J.A., Rare variants of IFIH1, a gene implicated in antiviral responses, protect against type 1 diabetes. Science 324 (2009), 387–389.
15. Picardo, M., Taïeb, A., (eds.) Vitiligo, 2010, Springer, Heidelberg & New York.
16. Richmond, J.M., Frisoli, M.L., Harris, J.E., Innate immune mechanisms in vitiligo: danger from within. Curr Opin Immunol 25 (2013), 676–682.
17. Shigemoto, T., Kageyama, M., Hirai, R., Zheng, J., Yoneyama, M., Fujita, T., Identification of loss of function mutations in human genes encoding RIG-I and MDA5: implications for resistance to type I diabetes. J Biol Chem 284 (2009), 13348–13354.
18. Smyth, D.J., Cooper, J.D., Bailey, R., Field, S., Burren, O., Smink, L.J., et al. A genome-wide association study of nonsynonymous SNPs identifies a type 1 diabetes locus in the interferon-induced helicase (IFIH1) region. Nat Genet 38 (2006), 617–619.
19. Sutherland, A., Davies, J., Owen, C.J., Vaikkakara, S., Walker, C., Cheetham, T.D., et al. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves’ disease susceptibility. J Clin Endocrinol Metab 92 (2007), 3338–3341.