The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

Jennifer J. Pointon; David Harvey; Tugce Karaderi; Louise H. Appleton; Claire Farrar; Millicent A. Stone; Roger D. Sturrock; John D. Reveille; Michael H. Weisman; Michael M. Ward; Matthew A. Brown; B. Paul Wordsworth

doi:10.1136/ard.2009.115147

The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

Jennifer J. Pointon, David Harvey, Tugce Karaderi, Louise H. Appleton, Claire Farrar, Millicent A. Stone, Roger D. Sturrock, John D. Reveille, Michael H. Weisman, Michael M. Ward, Matthew A. Brown, B. Paul Wordsworth

24 Citationer (Scopus)

Abstract

Objective: To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. Methods: 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. Results: 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. Conclusions: 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.

Originalsprog	Engelsk
Tidsskrift	Annals of the Rheumatic Diseases
Vol/bind	69
Udgave nummer	6
Sider (fra-til)	1243-1246
Antal sider	4
ISSN	0003-4967
DOI	https://doi.org/10.1136/ard.2009.115147
Status	Udgivet - 1 jun. 2010
Udgivet eksternt	Ja

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10.1136/ard.2009.115147

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Pointon, J. J., Harvey, D., Karaderi, T., Appleton, L. H., Farrar, C., Stone, M. A., Sturrock, R. D., Reveille, J. D., Weisman, M. H., Ward, M. M., Brown, M. A., & Wordsworth, B. P. (2010). The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). Annals of the Rheumatic Diseases, 69(6), 1243-1246. https://doi.org/10.1136/ard.2009.115147

The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD). / Pointon, Jennifer J.; Harvey, David; Karaderi, Tugce et al.
I: Annals of the Rheumatic Diseases, Bind 69, Nr. 6, 01.06.2010, s. 1243-1246.

Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › peer review

Pointon, JJ, Harvey, D, Karaderi, T, Appleton, LH, Farrar, C, Stone, MA, Sturrock, RD, Reveille, JD, Weisman, MH, Ward, MM, Brown, MA & Wordsworth, BP 2010, 'The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)', Annals of the Rheumatic Diseases, bind 69, nr. 6, s. 1243-1246. https://doi.org/10.1136/ard.2009.115147

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title = "The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)",

abstract = "Objective: To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. Methods: 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. Results: 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. Conclusions: 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.",

author = "Pointon, {Jennifer J.} and David Harvey and Tugce Karaderi and Appleton, {Louise H.} and Claire Farrar and Stone, {Millicent A.} and Sturrock, {Roger D.} and Reveille, {John D.} and Weisman, {Michael H.} and Ward, {Michael M.} and Brown, {Matthew A.} and Wordsworth, {B. Paul}",

year = "2010",

month = jun,

day = "1",

doi = "10.1136/ard.2009.115147",

language = "English",

volume = "69",

pages = "1243--1246",

journal = "Annals of the Rheumatic Diseases",

issn = "0003-4967",

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T1 - The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

AU - Pointon, Jennifer J.

AU - Harvey, David

AU - Karaderi, Tugce

AU - Appleton, Louise H.

AU - Farrar, Claire

AU - Stone, Millicent A.

AU - Sturrock, Roger D.

AU - Reveille, John D.

AU - Weisman, Michael H.

AU - Ward, Michael M.

AU - Brown, Matthew A.

AU - Wordsworth, B. Paul

PY - 2010/6/1

Y1 - 2010/6/1

N2 - Objective: To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. Methods: 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. Results: 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. Conclusions: 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.

AB - Objective: To replicate and refine the reported association of ankylosing spondylitis (AS) with two nonsynonymous single nucleotide polymorphisms (nsSNPs) on chromosome 16q22.1. Methods: 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. Results: 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. Conclusions: 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.

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U2 - 10.1136/ard.2009.115147

DO - 10.1136/ard.2009.115147

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SN - 0003-4967

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JO - Annals of the Rheumatic Diseases

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The chromosome 16q region associated with ankylosing spondylitis includes the candidate gene tumour necrosis factor receptor type 1-associated death domain (TRADD)

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