Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci.
Nat Genet
; 45(7): 730-8, 2013 Jul.
Article
em En
| MEDLINE
| ID: mdl-23749187
ABSTRACT
Ankylosing spondylitis is a common, highly heritable inflammatory arthritis affecting primarily the spine and pelvis. In addition to HLA-B*27 alleles, 12 loci have previously been identified that are associated with ankylosing spondylitis in populations of European ancestry, and 2 associated loci have been identified in Asians. In this study, we used the Illumina Immunochip microarray to perform a case-control association study involving 10,619 individuals with ankylosing spondylitis (cases) and 15,145 controls. We identified 13 new risk loci and 12 additional ankylosing spondylitis-associated haplotypes at 11 loci. Two ankylosing spondylitis-associated regions have now been identified encoding four aminopeptidases that are involved in peptide processing before major histocompatibility complex (MHC) class I presentation. Protective variants at two of these loci are associated both with reduced aminopeptidase function and with MHC class I cell surface expression.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Espondilite Anquilosante
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Predisposição Genética para Doença
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Polimorfismo de Nucleotídeo Único
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Fenômenos do Sistema Imunitário
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Loci Gênicos
Tipo de estudo:
Diagnostic_studies
/
Etiology_studies
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Observational_studies
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Prognostic_studies
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Risk_factors_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2013
Tipo de documento:
Article