The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis
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The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. / Pointon, J. J.; Harvey, D.; Karaderi, T.; Appleton, L. H.; Farrar, C.; Wordsworth, B. P.
I: Genes and Immunity, Bind 12, Nr. 5, 01.07.2011, s. 395-398.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis
AU - Pointon, J. J.
AU - Harvey, D.
AU - Karaderi, T.
AU - Appleton, L. H.
AU - Farrar, C.
AU - Wordsworth, B. P.
PY - 2011/7/1
Y1 - 2011/7/1
N2 - 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.
AB - 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.
KW - genome-wide association study
KW - JARID1A
KW - meta-analysis
KW - Spondyloarthropathy
UR - http://www.scopus.com/inward/record.url?scp=79960630577&partnerID=8YFLogxK
U2 - 10.1038/gene.2011.23
DO - 10.1038/gene.2011.23
M3 - Journal article
C2 - 21562575
AN - SCOPUS:79960630577
VL - 12
SP - 395
EP - 398
JO - Genes and Immunity
JF - Genes and Immunity
SN - 1466-4879
IS - 5
ER -
ID: 226396946