The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD).
<p><strong>Objective</strong> To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1.</p> <p><strong>Methods</strong> Firstly, 730 independent UK...
| Автори: | , , , , , , , , , , , |
|---|---|
| Формат: | Journal article |
| Мова: | English |
| Опубліковано: |
BMJ Publishing Group Ltd
2010
|
| Предмети: |
| _version_ | 1826288837793415168 |
|---|---|
| author | Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Stone, M Sturrock, R Reveille, J Weisman, M Ward, M Brown, M Wordsworth, B |
| author_facet | Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Stone, M Sturrock, R Reveille, J Weisman, M Ward, M Brown, M Wordsworth, B |
| author_sort | Pointon, J |
| collection | OXFORD |
| description | <p><strong>Objective</strong> To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1.</p> <p><strong>Methods</strong> Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls.</p> <p><strong>Results</strong> The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified.</p> <p><strong>Conclusions</strong> The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.</p> |
| first_indexed | 2024-03-07T02:19:45Z |
| format | Journal article |
| id | oxford-uuid:a380d76f-a4ec-4f4a-b7fb-73b173a44dcc |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-07T02:19:45Z |
| publishDate | 2010 |
| publisher | BMJ Publishing Group Ltd |
| record_format | dspace |
| spelling | oxford-uuid:a380d76f-a4ec-4f4a-b7fb-73b173a44dcc2022-03-27T02:27:35ZThe chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD).Journal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:a380d76f-a4ec-4f4a-b7fb-73b173a44dccMedical sciencesEnglishSymplectic Elements at OxfordBMJ Publishing Group Ltd2010Pointon, JHarvey, DKaraderi, TAppleton, LFarrar, CStone, MSturrock, RReveille, JWeisman, MWard, MBrown, MWordsworth, B<p><strong>Objective</strong> To replicate and refine the reported association of ankylosing spondylitis (AS) with two non-synonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1.</p> <p><strong>Methods</strong> Firstly, 730 independent UK patients with AS were genotyped for rs9939768 and rs6979 and allele frequencies were compared with 2879 previously typed historic disease controls. Secondly, the two data sets were combined in meta-analyses. Finally, 5 tagging SNPs, located between rs9939768 and rs6979, were analysed in 1604 cases and 1020 controls.</p> <p><strong>Results</strong> The association of rs6979 with AS was replicated, p=0.03, OR=1.14 (95% CI 1.01 to 1.28), and a trend for association with rs9939768 detected, p=0.06, OR=1.25 (95% CI 0.99 to 1.57). Meta-analyses revealed association of both SNPs with AS, p=0.0008, OR=1.31 (95% CI 1.12 to 1.54) and p=0.0009, OR=1.15 (95% CI 1.06 to 1.23) for rs9939768 and rs6979, respectively. New associations with rs9033 and rs868213 (p=0.00002, OR=1.23 (95% CI 1.12 to 1.36) and p=0.00002 OR=1.45 (95% CI 1.22 to 1.72), respectively, were identified.</p> <p><strong>Conclusions</strong> The region on chromosome 16 that has been replicated in the present work is interesting as the highly plausible candidate gene, tumour necrosis factor receptor type 1 (TNFR1)-associated death domain (TRADD), is located between rs9033 and rs868213. It will require additional work to identify the primary genetic association(s) with AS.</p> |
| spellingShingle | Medical sciences Pointon, J Harvey, D Karaderi, T Appleton, L Farrar, C Stone, M Sturrock, R Reveille, J Weisman, M Ward, M Brown, M Wordsworth, B The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title | The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title_full | The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title_fullStr | The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title_full_unstemmed | The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title_short | The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). |
| title_sort | chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1 associated death domain tradd |
| topic | Medical sciences |
| work_keys_str_mv | AT pointonj thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT harveyd thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT karaderit thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT appletonl thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT farrarc thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT stonem thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT sturrockr thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT reveillej thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT weismanm thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT wardm thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT brownm thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT wordsworthb thechromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT pointonj chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT harveyd chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT karaderit chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT appletonl chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT farrarc chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT stonem chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT sturrockr chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT reveillej chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT weismanm chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT wardm chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT brownm chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd AT wordsworthb chromosome16qregionassociatedwithankylosingspondylitisincludesthecandidategenetumournecrosisfactorreceptortype1associateddeathdomaintradd |