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Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/171896
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- Title
- SNP mapping and candidate gene sequencing in the class I region of the HLA complex : searching for multiple sclerosis susceptibility genes in Tasmanians
- Related
- Tissue antigens, Vol. 71, Issue 1, (2008), p.42-50
- DOI
- 10.1111/j.1399-0039.2007.00962.x
- Publisher
- Wiley-Blackwell Publishing
- Date
- 2008
- Author/Creator
- Burfoot, Rachel K
- Author/Creator
- Jensen, Cathy J
- Author/Creator
- Taylor, Bruce V
- Author/Creator
- Speed, Terence P
- Author/Creator
- Heard, R
- Author/Creator
- Stewart, Graeme J
- Author/Creator
- Foote, Simon J
- Author/Creator
- Kilpatrick, Trevor J
- Author/Creator
- Rubio, Justin P
- Author/Creator
- Field, Judith
- Author/Creator
- Stankovich, Jim
- Author/Creator
- Varney, M. D
- Author/Creator
- Johnson, Laura J
- Author/Creator
- Butzkueven, Helmut
- Author/Creator
- Booth, David R
- Author/Creator
- Bahlo, Melanie
- Author/Creator
- Tait, B. D
- Description
- 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 [ubiquitin D (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 over-transmitted 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 I MS susceptibility genes.
- Description
- 9 page(s)
- Subject Keyword
- Class I
- Subject Keyword
- HLA complex
- Subject Keyword
- Multiple sclerosis
- Subject Keyword
- Susceptibility
- Subject Keyword
- Tasmania
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/171896
- Identifier
- ISSN:0001-2815
- Identifier
- mq-rm-2011006669
- Identifier
- mq_res-ext-2-s2.0-36949031696
- Language
- eng
- Reviewed
Macquarie University ResearchOnline
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