Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308

Elsa Sousa; Joana Caetano-Lopes; Patricia Pinto; Fernando Pimentel; José Teles; Helena Canhao; Ana Rodrigues; Catarina Resende; Ana Filipa Mourao; Celia Ribeiro; Teresa Laura Pinto; Carlos Miranda Rosa; Jose Alberto Pereira da Silva; Jaime Branco; Francisco Ventura; Mario Viana Queiroz; Joao Eurico Fonseca

doi:10.1111/j.1749-6632.2009.04758.x

Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308

Elsa Sousa, Joana Caetano-Lopes, Patricia Pinto, Fernando Pimentel, José Teles, Helena Canhao, Ana Rodrigues, Catarina Resende, Ana Filipa Mourao, Celia Ribeiro, Teresa Laura Pinto, Carlos Miranda Rosa, Jose Alberto Pereira da Silva, Jaime Branco, Francisco Ventura, Mario Viana Queiroz, Joao Eurico Fonseca

Computational Biology and Biological Physics - Undergoing reorganization

Research output: Chapter in Book/Report/Conference proceeding › Paper in conference proceeding › peer-review

Abstract

Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPS were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.

Original language	English
Title of host publication	Contemporary Challenges in Autoimmunity
Publisher	Wiley-Blackwell
Pages	581-588
Volume	1173
DOIs	https://doi.org/10.1111/j.1749-6632.2009.04758.x
Publication status	Published - 2009
Event	6th International Congress on Autoimmunity - Oporto, Portugal Duration: 2008 Sept 10 → 2008 Sept 14

Publication series

Name
Volume	1173
ISSN (Print)	0077-8923

Conference

Conference	6th International Congress on Autoimmunity
Country/Territory	Portugal
City	Oporto
Period	2008/09/10 → 2008/09/14

Subject classification (UKÄ)

Biophysics

Keywords

susceptibility
ankylosing spondylitis
TNF promoter polymorphisms
prognosis

Access to Document

10.1111/j.1749-6632.2009.04758.x

Cite this

Sousa, E., Caetano-Lopes, J., Pinto, P., Pimentel, F., Teles, J., Canhao, H., Rodrigues, A., Resende, C., Mourao, A. F., Ribeiro, C., Pinto, T. L., Rosa, C. M., Pereira da Silva, J. A., Branco, J., Ventura, F., Queiroz, M. V., & Fonseca, J. E. (2009). Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308. In Contemporary Challenges in Autoimmunity (Vol. 1173, pp. 581-588). Wiley-Blackwell. https://doi.org/10.1111/j.1749-6632.2009.04758.x

@inproceedings{2b6c3cd1f5e04ab9aab13d908b2ed3c0,

title = "Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308",

abstract = "Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPS were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.",

keywords = "susceptibility, ankylosing spondylitis, TNF promoter polymorphisms, prognosis",

author = "Elsa Sousa and Joana Caetano-Lopes and Patricia Pinto and Fernando Pimentel and Jos{\'e} Teles and Helena Canhao and Ana Rodrigues and Catarina Resende and Mourao, {Ana Filipa} and Celia Ribeiro and Pinto, {Teresa Laura} and Rosa, {Carlos Miranda} and {Pereira da Silva}, {Jose Alberto} and Jaime Branco and Francisco Ventura and Queiroz, {Mario Viana} and Fonseca, {Joao Eurico}",

year = "2009",

doi = "10.1111/j.1749-6632.2009.04758.x",

language = "English",

volume = "1173",

publisher = "Wiley-Blackwell",

pages = "581--588",

booktitle = "Contemporary Challenges in Autoimmunity",

address = "United States",

note = "6th International Congress on Autoimmunity ; Conference date: 10-09-2008 Through 14-09-2008",

}

Sousa, E, Caetano-Lopes, J, Pinto, P, Pimentel, F, Teles, J, Canhao, H, Rodrigues, A, Resende, C, Mourao, AF, Ribeiro, C, Pinto, TL, Rosa, CM, Pereira da Silva, JA, Branco, J, Ventura, F, Queiroz, MV & Fonseca, JE 2009, Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308. in Contemporary Challenges in Autoimmunity. vol. 1173, Wiley-Blackwell, pp. 581-588, 6th International Congress on Autoimmunity, Oporto, Portugal, 2008/09/10. https://doi.org/10.1111/j.1749-6632.2009.04758.x

Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308. / Sousa, Elsa; Caetano-Lopes, Joana; Pinto, Patricia et al.

Contemporary Challenges in Autoimmunity. Vol. 1173 Wiley-Blackwell, 2009. p. 581-588.

Research output: Chapter in Book/Report/Conference proceeding › Paper in conference proceeding › peer-review

TY - GEN

T1 - Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308

AU - Sousa, Elsa

AU - Caetano-Lopes, Joana

AU - Pinto, Patricia

AU - Pimentel, Fernando

AU - Teles, José

AU - Canhao, Helena

AU - Rodrigues, Ana

AU - Resende, Catarina

AU - Mourao, Ana Filipa

AU - Ribeiro, Celia

AU - Pinto, Teresa Laura

AU - Rosa, Carlos Miranda

AU - Pereira da Silva, Jose Alberto

AU - Branco, Jaime

AU - Ventura, Francisco

AU - Queiroz, Mario Viana

AU - Fonseca, Joao Eurico

PY - 2009

Y1 - 2009

N2 - Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPS were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.

AB - Ankylosing spondylitis (AS) is a chronic inflammatory disease in which genetic factors play a central role. The efficacy of TNF blockers has reoriented research in this field in order to explain the influence of TNF in AS pathogenesis. The objective of this study was to access the influence of single nucleotide polymorphisms (SNPs) at positions -308 and -238 of the promoter region of TNF gene on AS susceptibility and prognosis. SNPS were determined by restriction fragment length polymorphisms in patients and controls. AS patients exhibited a decreased frequency of the A allele at position -238 (10%) when compared with controls (18%), suggesting that this could be a protective factor for disease susceptibility. In addition, the -308 GA/AA genotypes were associated with later disease onset in AS patients. These results suggest that TNF gene promoter polymorphisms at positions -238 and -308 could have a small influence on AS susceptibility and prognosis.

KW - susceptibility

KW - ankylosing spondylitis

KW - TNF promoter polymorphisms

KW - prognosis

U2 - 10.1111/j.1749-6632.2009.04758.x

DO - 10.1111/j.1749-6632.2009.04758.x

M3 - Paper in conference proceeding

C2 - 19758203

VL - 1173

SP - 581

EP - 588

BT - Contemporary Challenges in Autoimmunity

PB - Wiley-Blackwell

T2 - 6th International Congress on Autoimmunity

Y2 - 10 September 2008 through 14 September 2008

ER -

Ankylosing Spondylitis Susceptibility and Severity-Contribution of TNF Gene Promoter Polymorphisms at Positions-238 and-308

Abstract

Publication series

Conference

Subject classification (UKÄ)

Keywords

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