期刊
GENES AND IMMUNITY
卷 12, 期 5, 页码 395-398出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/gene.2011.23
关键词
spondyloarthropathy; genome-wide association study; JARID1A; meta-analysis
资金
- Arthritis Research UK [19356, 18797]
- Thames Valley Comprehensive Local Research Network (TVCLRN)
- Henni Mester studentship
- Wellcome Trust [076113, 068545/Z/02]
- National Ankylosing Spondylitis Society (UK)
- Medical Research Council [G0000934]
- MRC [G0000934] Funding Source: UKRI
- Medical Research Council [G0000934] Funding Source: researchfish
- Versus Arthritis [19356] Funding Source: researchfish
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. Genes and Immunity (2011) 12, 395-398; doi:10.1038/gene.2011.23; published online 12 May 2011
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