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Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

Jensen, Cathy J ; Stankovich, Jim ; Van der Walt, Anneke ; Bahlo, Melanie ; Taylor, Bruce V ; van der Mei, Ingrid A F ; Foote, Simon J ; Kilpatrick, Trevor J ; Johnson, Laura J ; Wilkins, Ella ; Field, Judith ; Danoy, Patrick ; Brown, Matthew A ; Rubio, Justin P ; Butzkueven, Helmut Kleinschnitz, Christoph

PloS one, 2010-04, Vol.5 (4), p.e10003-e10003 [Periódico revisado por pares]

United States: Public Library of Science

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Título:
Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients
Autor: Jensen, Cathy J ; Stankovich, Jim ; Van der Walt, Anneke ; Bahlo, Melanie ; Taylor, Bruce V ; van der Mei, Ingrid A F ; Foote, Simon J ; Kilpatrick, Trevor J ; Johnson, Laura J ; Wilkins, Ella ; Field, Judith ; Danoy, Patrick ; Brown, Matthew A ; Rubio, Justin P ; Butzkueven, Helmut
Kleinschnitz, Christoph
Assuntos: Adult ; Age of Onset ; Alleles ; Analysis ; Atrophy ; Australia ; Brain ; Brain - pathology ; CD40 antigen ; CD58 antigen ; Chromosome 12 ; Cognition ; Cohort Studies ; Consortia ; Cytokines ; Demyelination ; Disability Evaluation ; Disease susceptibility ; Ethics ; Female ; Genes ; Genetic aspects ; Genetic Predisposition to Disease ; Genetics ; Genetics and Genomics/Genetics of Disease ; Genome-Wide Association Study ; Haplotypes ; Health risks ; Histocompatibility antigen HLA ; Hospitals ; Humans ; Immunology ; Interleukin 2 receptors ; Interleukin 7 receptors ; Male ; Medical research ; Medicine, Experimental ; Metabolism ; Multiple sclerosis ; Multiple Sclerosis - genetics ; Neurological Disorders/Multiple Sclerosis and Related Disorders ; Neurological Disorders/Neurogenetics ; Neuroscience/Neurobiology of Disease and Regeneration ; Neurosciences ; Patients ; Polymorphism ; Polymorphism, Single Nucleotide ; Population ; Risk ; Severity of Illness Index ; Single nucleotide polymorphisms ; Single-nucleotide polymorphism ; Spectrum analysis ; Studies
É parte de: PloS one, 2010-04, Vol.5 (4), p.e10003-e10003
Notas: ObjectType-Article-1
SourceType-Scholarly Journals-1
ObjectType-Feature-2
Conceived and designed the experiments: JS JPR HB. Performed the experiments: CJJ BT IvdM TJK LJJ EW JF PD MAB JPR HB The Australian and New Zealand Multiple Sclerosis Genetics Consortium. Analyzed the data: CJJ JS AVdW. Contributed reagents/materials/analysis tools: JS MB BT IvdM SJF TJK MAB JPR. Wrote the paper: CJJ JS HB.
Members of the ANZgene Consortium are listed at the end of the manuscript.
Descrição: Recent association studies in multiple sclerosis (MS) have identified and replicated several single nucleotide polymorphism (SNP) susceptibility loci including CLEC16A, IL2RA, IL7R, RPL5, CD58, CD40 and chromosome 12q13-14 in addition to the well established allele HLA-DR15. There is potential that these genetic susceptibility factors could also modulate MS disease severity, as demonstrated previously for the MS risk allele HLA-DR15. We investigated this hypothesis in a cohort of 1006 well characterised MS patients from South-Eastern Australia. We tested the MS-associated SNPs for association with five measures of disease severity incorporating disability, age of onset, cognition and brain atrophy. We observed trends towards association between the RPL5 risk SNP and time between first demyelinating event and relapse, and between the CD40 risk SNP and symbol digit test score. No associations were significant after correction for multiple testing. We found no evidence for the hypothesis that these new MS disease risk-associated SNPs influence disease severity.
Editor: United States: Public Library of Science
Idioma: Inglês

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Multiple sclerosis susceptibility-associated SNPs do not influence disease severity measures in a cohort of Australian MS patients

United States: Public Library of Science

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