Genome-wide association analyses identify 13 new susceptibility loci for generalized vitiligo (original) (raw)
Picardo, M. & Taïeb, A. (eds.). Vitiligo (Springer, Heidelberg & New York, 2010).
Alkhateeb, A. et al. Epidemiology of vitiligo and associated autoimmune diseases in Caucasian probands and their families. Pigment Cell Res.16, 208–214 (2003). ArticlePubMed Google Scholar
Birlea, S.A. et al. Comprehensive association analysis of candidate genes for generalized vitiligo supports XBP1, FOXP3, and TSLP. J. Invest. Dermatol.131, 371–381 (2011). ArticleCASPubMed Google Scholar
Jin, Y. et al. Next-generation DNA re-sequencing identifies common variants of TYR and HLA-A that modulate the risk of generalized vitiligo via antigen presentation. J. Investig. Dermatol. published online, doi:10.1038/jid.2012.37 (8 March 2012). ArticleCASPubMed Google Scholar
Spritz, R.A. The genetics of generalized vitiligo: autoimmune pathways and an inverse relationship with malignant melanoma. Genome Med.2, 78 (2010). ArticlePubMedPubMed Central Google Scholar
Rinchik, E.M. et al. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Nature361, 72–76 (1993). ArticleCASPubMed Google Scholar
Kayser, M. et al. Three genome-wide association studies and a linkage analysis identify HERC2 as a human iris color gene. Am. J. Hum. Genet.82, 411–423 (2008). ArticleCASPubMedPubMed Central Google Scholar
Sturm, R.A. et al. A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color. Am. J. Hum. Genet.82, 424–431 (2008). ArticleCASPubMedPubMed Central Google Scholar
Eiberg, H. et al. Blue eye color in humans may be caused by a perfectly associated founder mutation in a regulatory element located within the HERC2 gene inhibiting OCA2 expression. Hum. Genet.123, 177–187 (2008). ArticleCASPubMed Google Scholar
Jannot, A.-S. Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma. Eur. J. Hum. Genet.13, 913–920 (2005). ArticleCASPubMed Google Scholar
Amos, C.I. et al. Genome-wide association study identifies novel loci predisposing to cutaneous melanoma. Hum. Mol. Genet.20, 5012–5023 (2011). ArticleCASPubMedPubMed Central Google Scholar
Cook, A.L. et al. Analysis of cultured human melanocytes based on polymorphisms within the SLC45A2/MATP, SLC24A5/NCKX5, and OCA2/P loci. J. Invest. Dermatol.129, 392–405 (2009). ArticleCASPubMed Google Scholar
Skipper, J.C. et al. An HLA-A2-restricted tyrosinase antigen on melanoma cells results from posttranslational modification and suggests a novel pathway for processing of membrane proteins. J. Exp. Med.183, 527–534 (1996). ArticleCASPubMed Google Scholar
Touloukian, C.E., Leitner, W.W., Robbins, P.F., Rosenberg, S. & Restifo, N.P. Mining the melanosome for tumor vaccine targets: P polypeptide is a novel tumor-associated antigen. Cancer Res.61, 8100–8104 (2001). CASPubMedPubMed Central Google Scholar
Tomany, S.C., Klein, R. & Klein, B.E.K. The relationship between iris color, hair color, and skin sun sensitivity and the 10-year incidence of age-related maculopathy: the Beaver Dam Eye Study. Ophthalmology110, 1526–1533 (2003). ArticlePubMed Google Scholar
Duffy, D.L. et al. A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation. Am. J. Hum. Genet.80, 241–252 (2007). ArticleCASPubMed Google Scholar
Sulem, P. et al. Genetic determinants of hair, eye, and skin pigmentation in Europeans. Nat. Genet.39, 1443–1452 (2007). ArticleCASPubMed Google Scholar
Dessinioti, C., Antoniou, C., Katsambas, A. & Stratigos, A.J. Melanocortin 1 receptor variants: functional role and pigmentary associations. Photochem. Photobiol.87, 978–987 (2011). ArticleCASPubMed Google Scholar
Kato, H. et al. Differential roles of MDA5 and RIG-I helicases in the recognition of RNA viruses. Nature441, 101–105 (2006). ArticleCASPubMed Google Scholar
Smyth, D.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, 617–619 (2006). ArticleCASPubMed Google Scholar
Sutherland, A. et al. Genomic polymorphism at the interferon-induced helicase (IFIH1) locus contributes to Graves' disease susceptibility. J. Clin. Endocrinol. Metab.92, 3338–3341 (2007). ArticleCASPubMed Google Scholar
Martínez, A. et al. IFIH1-GCA-KCNH7 locus: influence on multiple sclerosis risk. Eur. J. Hum. Genet.16, 861–864 (2008). ArticlePubMed Google Scholar
Gateva, V. et al. A large-scale replication study identifies TNIP1, PRDM1, J_AZF1, UHRF1BP1_ and IL10 as risk loci for systemic lupus erythematosus. Nat. Genet.41, 1228–1233 (2009). ArticleCASPubMedPubMed Central Google Scholar
Peach, R.J. et al. Both extracellular immunoglobin-like domains of CD80 contain residues critical for binding T cell surface receptors CTLA-4 and CD28. J. Biol. Chem.270, 21181–21187 (1995). ArticleCASPubMed Google Scholar
Stamper, C.C. et al. Crystal structure of the B7-1/CTLA-4 complex that inhibits human immune responses. Nature410, 608–611 (2001). ArticleCASPubMed Google Scholar
Wu, J.N. & Koretzky, G.A. The SLP-76 family of adapter proteins. Semin. Immunol.16, 379–393 (2004). ArticleCASPubMed Google Scholar
Sasaki, S. et al. Cloning and expression of human B cell-specific transcription factor BACH2 mapped to chromosome 6q15. Oncogene19, 3739–3749 (2000). ArticleCASPubMed Google Scholar
Cooper, J.D. et al. Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Nat. Genet.40, 1399–1401 (2008). ArticleCASPubMedPubMed Central Google Scholar
Grant, S.F. et al. Follow-up analysis of genome-wide association data identifies novel loci for type 1 diabetes. Diabetes58, 290–295 (2009). ArticleCASPubMedPubMed Central Google Scholar
Franke, A. et al. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat. Genet.42, 1118–1125 (2010). ArticleCASPubMedPubMed Central Google Scholar
Dragone, L.L., Shaw, L.A., Myers, M.D. & Weiss, A. SLAP, a regulator of immunoreceptor ubiquitination, signaling, and trafficking. Immunol. Rev.232, 218–228 (2009). ArticleCASPubMed Google Scholar
Tomer, Y. & Greenberg, D. The thyroglobulin gene as the first thyroid-specific susceptibility gene for autoimmune thyroid disease. Trends Mol. Med.10, 306–308 (2004). ArticleCASPubMed Google Scholar
Lamkanfi, M. & Kanneganti, T.D. Caspase-7: a protease involved in apoptosis and inflammation. Int. J. Biochem. Cell Biol.42, 21–24 (2010). ArticleCASPubMed Google Scholar
García-Lozano, J.R. et al. Caspase 7 influences susceptibility to rheumatoid arthritis. Rheumatology (Oxford)46, 1243–1247 (2007). Article Google Scholar
Babu, S.R. et al. Caspase 7 is a positional candidate gene for IDDM 17 in a Bedouin Arab family. Ann. NY Acad. Sci.1005, 340–343 (2003). ArticleCASPubMed Google Scholar
Ramos, P.S. et al. Genetic analyses of interferon pathway-related genes reveal multiple new loci associated with systemic lupus erythematosus. Arthritis Rheum.63, 2049–2057 (2011). ArticleCASPubMedPubMed Central Google Scholar
Hakonarson, H. et al. A novel susceptibility locus for type 1 diabetes on Chr12q13 identified by a genome-wide association study. Diabetes57, 1143–1146 (2008). ArticleCASPubMed Google Scholar
Petukhova, L. et al. Genome-wide association study in alopecia areata implicates both innate and adaptive immunity. Nature466, 113–117 (2010). ArticleCASPubMedPubMed Central Google Scholar
Devallière, J. & Charreau, B. The adaptor Lnk (SH2B3): an emerging regulator in vascular cells and a link between immune and inflammatory signaling. Biochem. Pharmacol.82, 1391–1402 (2011). ArticlePubMed Google Scholar
Hunt, K.A. et al. Newly identified genetic risk variants for celiac disease related to the immune response. Nat. Genet.40, 395–402 (2008). ArticleCASPubMedPubMed Central Google Scholar
Coenen, M.J. et al. Common and different genetic background for rheumatoid arthritis and coeliac disease. Hum. Mol. Genet.18, 4195–4203 (2009). ArticleCASPubMed Google Scholar
Alcina, A. et al. The autoimmune disease-associated KIF5A, CD226 and SH2B3 gene variants confer susceptibility for multiple sclerosis. Genes Immun.11, 439–445 (2010). ArticleCASPubMed Google Scholar
Seya, T., Matsumoto, M., Ebihara, T. & Oshiumi, H. Functional evolution of the TICAM-1 pathway for extrinsic RNA sensing. Immunol. Rev.227, 44–53 (2009). ArticleCASPubMed Google Scholar
Taïeb, A. & Picardo, M. The definition and assessment of vitiligo: a consensus report of the Vitiligo European Task Force. Pigment Cell Res.20, 27–35 (2007). ArticlePubMed Google Scholar
Purcell, S. et al. PLINK: a toolset for whole-genome association and population-based linkage analysis. Am. J. Hum. Genet.81, 559–575 (2007). ArticleCASPubMedPubMed Central Google Scholar
Price, A.L. et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat. Genet.38, 904–909 (2006). ArticleCASPubMed Google Scholar
Li, Y., Willer, C.J., Ding, J., Scheet, P. & Abecasis, G.R. MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet. Epidemiol.34, 816–834 (2010). ArticlePubMedPubMed Central Google Scholar
Barrett, J.C., Fry, B., Maller, J. & Daly, M.J. Haploview: analysis and visualization of LD and haplotype maps. Bioinformatics21, 263–265 (2005). ArticleCASPubMed Google Scholar
Falconer, D.S. The inheritance of liability to certain diseases, estimated from the incidence among relatives. Ann. Hum. Genet.29, 51–76 (1965). Article Google Scholar
Risch, N. Assessing the role of HLA-linked and unlinked determinants of disease. Am. J. Hum. Genet.40, 1–14 (1987). CASPubMedPubMed Central Google Scholar
Howitz, J., Brodthagen, H., Schwartz, M. & Thompsen, K. Prevalence of vitiligo. Epidemiological survey on the isle of Bornholm, Denmark. Arch. Dermatol.113, 47–52 (1977). ArticleCASPubMed Google Scholar
Szklarczyk, D. et al. The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored. Nucleic Acids Res.39 Database Issue, D561–D568 (2011). ArticleCASPubMed Google Scholar