The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis
| Autor: | C. Farrar, L H Appleton, D Harvey, Tugce Karaderi, B P Wordsworth, J J Pointon |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
Genetics
Histone Demethylases Linkage disequilibrium Ankylosing spondylitis Immunology Haplotype Single-nucleotide polymorphism Genome-wide association study Odds ratio Biology medicine.disease Polymorphism Single Nucleotide Gene Expression Regulation Case-Control Studies medicine Humans Genetic Predisposition to Disease Spondylitis Ankylosing RNA Messenger Retinoblastoma-Binding Protein 2 Allele frequency Genetics (clinical) Genetic association Genome-Wide Association Study |
| DOI: | 10.1038/gene.2011.23 |
| Popis: | Associations with disease identified by genome-wide association studies (GWAS) must be replicated and refined to validate causative variants. In the Wellcome Trust Case Control Consortium (WTCCC) GWAS using 14 500 non-synonymous single nucleotide polymorphisms (nsSNP), rs11062385 (a nsSNP in JARID1A) showed nominal association with ankylosing spondylitis (AS) (P=0.0006, odds ratio (OR)=1.26, 95% confidence interval (95% CI)=1.1-1.4). To replicate and refine the association of JARID1A, rs11062385 was genotyped in 730 further cases and compared with allele frequencies in non-AS disease cohorts typed by WTCCC. We replicated the initial association (P=0.04, OR=1.16, 95% CI=1.01-1.34) and identified a strengthened association with AS in a meta-analysis of this new study combined with the original WTCCC study (P=0.0001, OR=1.21, 95% CI=1.10-1.33). We also genotyped nine further intronic tagging SNPs in JARID1A in 1604 AS cases and 1020 new control samples, but none was associated with AS. JARID1A or a locus in strong linkage disequilibrium with it is a positional candidate for susceptibility to AS. |
| Databáze: | OpenAIRE |
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