Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74

Simmonds, M. J. and Heward, J. M. and Barrett, J. C. and Franklyn, J. A. and Gough, S. C. L. (2006) Association of the BTNL2 rs2076530 single nucleotide polymorphism with Graves' disease appears to be secondary to DRB1 exon 2 position beta74. Clinical Endocrinology, 65 (4). pp. 429-432. ISSN 0300-0664

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Abstract

Objective: The HLA region encodes numerous immune response genes, with the DR/DQ molecules consistently associated with autoimmune disease (AID). Recent studies in sarcoidosis have identified association of a single nucleotide polymorphism (SNP) rs2076530 within BTNL2, a potential T-cell inhibitor, independent of the known DRB1 association. The aim of this study was to investigate the association rs2076530 with disease in a large UK Caucasian Graves' disease (GD) dataset. Design: A case control association study of the rs2076530 polymorphism. Patients: Eight hundred sixty-four Graves' disease patients and 864 controls. Measurements: Tests for association with disease. Results: We detected association of rs2076530 within a large GD dataset OR = 1·32 (95% CI = 1·14-1·52), however, linkage disequilibrium (LD) analysis revealed association of rs2076530 to be secondary to the previously established DRB1 exon 2 encoded position β74 effect although a rare haplotype effect, including both loci, cannot be excluded. Conclusions: BTNL2 may be a sarcoidosis-specific susceptibility loci, although only extensive examination of the whole HLA region in different inflammatory/AIDs will enable DR/DQ independent HLA effects to be determined. © 2006 Blackwell Publishing Ltd.

Keywords:article, BTNL2 gene, controlled study, disease association, disease predisposition, exon, gene, gene locus, Graves disease, haplotype, human, major clinical study, population genetics, priority journal, sarcoidosis, single nucleotide polymorphism, Case-Control Studies, Chi-Square Distribution, European Continental Ancestry Group, Exons, Genetic Predisposition to Disease, Genotype, HLA-DR Antigens, Humans, Membrane Glycoproteins, Odds Ratio, Polymorphism, Single Nucleotide, Risk
Subjects:C Biological Sciences > C420 Human Genetics
Divisions:College of Science > School of Life Sciences
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ID Code:22628
Deposited On:12 Mar 2016 16:03

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