The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis.
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...
| Main Authors: | , , , , , |
|---|---|
| Format: | Journal article |
| Language: | English |
| Published: |
2011
|
| _version_ | 1797075737240403968 |
|---|---|
| author | Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Wordsworth, B |
| author_facet | Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Wordsworth, B |
| author_sort | Pointon, J |
| collection | OXFORD |
| description | 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. |
| first_indexed | 2024-03-06T23:54:25Z |
| format | Journal article |
| id | oxford-uuid:73b42214-9b4e-425f-a172-0fbebf1a5069 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T23:54:25Z |
| publishDate | 2011 |
| record_format | dspace |
| spelling | oxford-uuid:73b42214-9b4e-425f-a172-0fbebf1a50692022-03-26T19:58:12ZThe histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis.Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:73b42214-9b4e-425f-a172-0fbebf1a5069EnglishSymplectic Elements at Oxford2011Pointon, JHarvey, DKaraderi, TAppleton, LFarrar, CWordsworth, BAssociations 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. |
| spellingShingle | Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Wordsworth, B The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title | The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title_full | The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title_fullStr | The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title_full_unstemmed | The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title_short | The histone demethylase JARID1A is associated with susceptibility to ankylosing spondylitis. |
| title_sort | histone demethylase jarid1a is associated with susceptibility to ankylosing spondylitis |
| work_keys_str_mv | AT pointonj thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT harveyd thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT karaderit thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT appletonl thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT farrarc thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT wordsworthb thehistonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT pointonj histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT harveyd histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT karaderit histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT appletonl histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT farrarc histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis AT wordsworthb histonedemethylasejarid1aisassociatedwithsusceptibilitytoankylosingspondylitis |