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SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians

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Burfoot, RK and Jensen, CJ and Field, J and Stankovich, J and Varney, MD and Johnson, LJ and Butzkueven, H and Booth, D and Bahlo, M and Tait, BD and Taylor, BV and Speed, TP and Heard, R and Stewart, GJ and Foote, SJ and Kilpatrick, TJ and Rubio, JP (2008) SNP mapping and candidate gene sequencing in the class I region of the HLA complex: searching for multiple sclerosis susceptibility genes in Tasmanians. Tissue Antigens, 71 (1). pp. 42-50. ISSN 0001-2815

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Abstract

This study is an extension to previously published work that has linked variation in the human leukocyte antigen (HLA) class I region with susceptibility to multiple sclerosis (MS) in Australians from the Island State of Tasmania. Single nucleotide polymorphism (SNP) mapping was performed on an 865-kb candidate region (D6S1683–D6S265) in 166 Tasmanian MS families, and seven candidate genes [ubiquitinD(UBD), olfactory receptor 2H3 (OR2H3), gamma-aminobutyric acid B receptor 1 (GABBR1), myelin oligodendrocyte glycoprotein (MOG), HLA-F, HLA complex group 4 (HCG4) and HLA-G] were resequenced. SNPs tagging the extended MS susceptibility haplotype were genotyped in an independent sample of 356 Australian MS trios and SNPs in the MOG gene were significantly overtransmitted to MS cases. We identified significant effects on MS susceptibility of HLA-A*2 (OR: 0.51; P = 0.05) and A*3 (OR: 2.85; P = 0.005), and two coding polymorphisms in the MOG gene (V145I: P = 0.01, OR: 2.2; V142L: P = 0.04, OR: 0.45) after full conditioning on HLA-DRB1. We have therefore identified plausible candidates for the causal MS susceptibility allele, and although not conclusive at this stage, our data provide suggestive evidence for multiple class IMS susceptibility genes.

Item Type: Article
Keywords: class I • HLA complex • multiple sclerosis • susceptibility • Tasmania
Journal or Publication Title: Tissue Antigens
Page Range: pp. 42-50
ISSN: 0001-2815
Identification Number - DOI: 10.1111/j.1399-0039.2007.00962.x
Additional Information: The definitive published version is available online at: http://interscience.wiley.com
Date Deposited: 02 Jul 2008 04:34
Last Modified: 18 Nov 2014 03:44
URI: http://eprints.utas.edu.au/id/eprint/6958
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