Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.14/172495
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- Title
- Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
- Related
- Genes and immunity, Vol. 9, Issue 7, (2008), p.624-630
- DOI
- 10.1038/gene.2008.59
- Publisher
- Nature Publishing Group
- Date
- 2008
- Author/Creator
- Rubio, Justin P
- Author/Creator
- Stankovich, Jim
- Author/Creator
- Varney, Michael D
- Author/Creator
- Speed, Terence P
- Author/Creator
- Taylor, Bruce V
- Author/Creator
- Foote, Simon J
- Author/Creator
- Butzkueven, Helmut
- Author/Creator
- Kilpatrick, Trevor J
- Author/Creator
- Field, Judith
- Author/Creator
- Tubridy, Niall
- Author/Creator
- Marriott, Mark
- Author/Creator
- Chapman, Caron
- Author/Creator
- Bahlo, Melanie
- Author/Creator
- Perera, Devindri
- Author/Creator
- Johnson, Laura J
- Author/Creator
- Tait, Brian D
- Description
- A recent genome-wide association study (GWAS) conducted by the International Multiple Sclerosis Genetics Consortium (IMSGC) identified a number of putative MS susceptibility genes. Here we have performed a replication study in 1134 Australian MS cases and 1265 controls for 17 risk-associated single nucleotide polymorphisms (SNPs) reported by the IMSGC. Of 16 SNPs that passed quality control filters, four, each corresponding to a different non-human leukocyte antigen (HLA) gene, were associated with disease susceptibility: KIAA0350 (rs6498169) P = 0.001, IL2RA (rs2104286) P = 0.033, RPL5 (rs6604026) P = 0.041 and CD58 (rs12044852) P = 0.042. There was no association (P = 0.58) between rs6897932 in the IL7R gene and the risk of MS. No interactions were detected between the replicated IMSGC SNPs and HLA-DRB1*15, gender, disease course, disease progression or age-at-onset. We used a novel Bayesian approach to estimate the extent to which our data increased or decreased evidence for association with the six most-associated IMSGC loci. These analyses indicated that even modest P-values, such as those reported here, can contribute markedly to the posterior probability of 'true' association in replication studies. In conclusion, these data provide support for the involvement of four non-HLA genes in the pathogenesis of MS, and combined with previous data, increase to genome-wide significance (P = 3 × 10⁻⁸) evidence of an association between KIAA0350 and risk of disease.
- Description
- 7 page(s)
- Resource Type
- journal article
- Organisation
- Macquarie University. Australian School of Advanced Medicine
- Identifier
- http://hdl.handle.net/1959.14/172495
- Identifier
- ISSN:1466-4879
- Identifier
- mq_res-20120612-165957
- Language
- eng
- Reviewed
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