A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease

Simmonds, M. J. and Heward, J.M. and Howson, J.M.M. and Foxall, H. and Nithiyananthan, R. and Franklyn, J.A. and Gough, S.C.L. (2004) A systematic approach to the assesment of known TNF-alpha polymorphisms in Graves' disease. Genes and Immunity, 5 (4). pp. 267-273. ISSN 1466-4879

Full content URL: http://dx.doi.org/10.1038/sj.gene.6364066

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Abstract

Single-nucleotide polymorphisms (SNPs) within the tumour necrosis factor alpha (TNF-a) gene on chromosome 6p21.3 have been associated with many autoimmune diseases; however, results have been conflicting and accurate allele frequencies have never been established in a UK Caucasian population. The aim of this study was to assess the frequency of 22 known TNF-a SNPs in a UK Caucasian control population and investigate association of all polymorphisms with >5 minor allele frequency in a large case-control data set of patients with Graves' disease (GD). Eight of the 22 SNPs had minor allele frequencies >5 and were investigated further. The other 14 SNPs were present in the UK population at frequencies ranging from 0 to 4.7. A significant increase of the A allele of the -238 SNP was seen in GD patients when compared with control subjects (9.6 vs 6.8, respectively; P=0.003) and mirrored in the genotype distribution (P=0.009). Furthermore, association of the -238 SNP appears not to be due to linkage disequilibrium of the known HLA-DRB1*03 associations with GD. This study has established accurate allele frequencies of TNF-a SNPs in a UK population and provides preliminary evidence for association of the TNF-a gene with GD.

Keywords:HLA DR antigen, tumor necrosis factor alpha, tumor necrosis factor alpha, article, case control study, Caucasian, controlled study, gene frequency, gene linkage disequilibrium, genetic association, genotype, Graves disease, human, immunopathogenesis, major clinical study, medical assessment, population genetics, priority journal, single nucleotide polymorphism, United Kingdom, DNA sequence, genetic polymorphism, genetics, Graves disease, Case-Control Studies, Humans, Linkage Disequilibrium, Polymorphism, Genetic, Polymorphism, Single Nucleotide, Sequence Analysis, DNA, Tumor Necrosis Factor-alpha
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22636
Deposited On:19 Mar 2016 22:18

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