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Replication of KIAA0350, IL2RA, RPL5 and CD58 as multiple sclerosis susceptibility genes in Australians.
Rubio, J P; Stankovich, J; Field, J; Tubridy, N; Marriott, M; Chapman, C; Bahlo, M; Perera, D; Johnson, L J; Tait, B D; Varney, M D; Speed, T P; Taylor, B V; Foote, S J; Butzkueven, H; Kilpatrick, T J.
Afiliación
  • Rubio JP; The Howard Florey Institute, Melbourne, Victoria, Australia. justin.rubio@florey.edu.au
Genes Immun ; 9(7): 624-30, 2008 Oct.
Article en En | MEDLINE | ID: mdl-18650830
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 x 10(-8)) evidence of an association between KIAA0350 and risk of disease.
Asunto(s)

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Proteínas de Transporte de Monosacáridos / Antígenos CD58 / Predisposición Genética a la Enfermedad / Lectinas Tipo C / Subunidad alfa del Receptor de Interleucina-2 / Esclerosis Múltiple Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Región como asunto: Oceania Idioma: En Revista: Genes Immun Asunto de la revista: ALERGIA E IMUNOLOGIA / BIOLOGIA MOLECULAR Año: 2008 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Proteínas Ribosómicas / Proteínas de Transporte de Monosacáridos / Antígenos CD58 / Predisposición Genética a la Enfermedad / Lectinas Tipo C / Subunidad alfa del Receptor de Interleucina-2 / Esclerosis Múltiple Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adolescent / Adult / Aged / Child / Female / Humans / Male / Middle aged País/Región como asunto: Oceania Idioma: En Revista: Genes Immun Asunto de la revista: ALERGIA E IMUNOLOGIA / BIOLOGIA MOLECULAR Año: 2008 Tipo del documento: Article País de afiliación: Australia Pais de publicación: Reino Unido