Journal article
Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians
JP Rubio, J Stankovich, J Field, N Tubridy, M Marriott, C Chapman, M Bahlo, D Perera, LJ Johnson, BD Tait, MD Varney, TP Speed, BV Taylor, SJ Foote, H Butzkueven, TJ Kilpatrick
Genes and Immunity | NATURE PUBLISHING GROUP | Published : 2008
DOI: 10.1038/gene.2008.59
Abstract
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 rs68979..
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Awarded by National Center for Research Resources
Funding Acknowledgements
We are grateful to people with MS who have participated in this study and to staff at The Royal Melbourne Hospital and Menzies Research Institute who were involved in recruitment of MS patients. JPR and MB are supported by Biomedical Career Development Awards from the Australian National Health and Medical Research Council (NHMRC). HB is supported by a Peter Doherty Post-doctoral Fellowship (NHMRC). SJF and TPS are Senior Principal Research Fellows of the NHMRC. This work was supported by Charity Works for MS, and an NHMRC Project grant (App ID 509184). The Broad Institute Center for Genotyping and Analysis is supported by grant U54 RR020278 from the National Center for Research Resources.