| http://purl.uniprot.org/citations/19890347 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/19890347 | http://www.w3.org/2000/01/rdf-schema#comment | "Generalized vitiligo is a common disorder in which patchy loss of skin and hair pigmentation principally appears to result from autoimmune loss of melanocytes from affected regions. We previously characterized a unique founder population in an isolated Romanian community with elevated prevalence of generalized vitiligo and other autoimmune diseases, including autoimmune thyroid disease, rheumatoid arthritis, and type I diabetes mellitus. Here, we describe a genome-wide association study (GWAS) of generalized vitiligo in 32 distantly related affected patients from this remote village and 50 healthy controls from surrounding villages. Vitiligo was significantly associated with single-nucleotide polymorphisms (SNPs) in a 30-kb LD block on chromosome 6q27, in close vicinity to IDDM8, a linkage and association signal for type I diabetes mellitus and rheumatoid arthritis. The region of association contains only one gene, SMOC2, within which SNP rs13208776 attained genome-wide significance for association with generalized vitiligo (P=8.51x10(-8)) at odds ratio 7.445 (95% confidence interval=3.56-15.53) for the high-risk allele and population attributable risk 28.00. SMOC2 encodes a modular extracellular calcium-binding glycoprotein of unknown function. Our findings indicate that SMOC2 is a risk locus for generalized vitiligo and perhaps other autoimmune diseases."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.org/dc/terms/identifier | "doi:10.1038/jid.2009.347"xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/author | "Spritz R.A."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/author | "Fain P.R."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/author | "Gowan K."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/author | "Birlea S.A."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/date | "2010"xsd:gYear |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/name | "J Invest Dermatol"xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/pages | "798-803"xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/title | "Genome-wide association study of generalized vitiligo in an isolated European founder population identifies SMOC2, in close proximity to IDDM8."xsd:string |
| http://purl.uniprot.org/citations/19890347 | http://purl.uniprot.org/core/volume | "130"xsd:string |
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