Linked Life Data

19111528

Source:http://linkedlifedata.com/resource/pubmed/id/19111528

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:dateCreated
2009-2-3
pubmed:abstractText
Multiple sclerosis (MS) is a common cause of neurological disability in young adults. The disease generally manifests in early to middle adulthood and causes various neurological deficits. Autoreactive T lymphocytes and their associated antigens have long been presumed important features of MS pathogenesis. The Protein tyrosine phosphatase receptor type C gene (PTPRC) encodes the T-cell receptor CD45. Variations within PTPRC have been previously associated with diseases of autoimmune origin such as type 1 diabetes mellitus and Graves' disease. We set out to investigate two variants within the PTPRC gene, C77G and C772T in subjects with MS and matched healthy controls to determine whether significant differences exist in these markers in an Australian population. We employed high resolution melt analysis (HRM) and restriction length polymorphism (RFLP) techniques to determine genotypic and allelic frequencies. Our study found no significant difference between frequencies for PTPRC C77G by either genotype (Chi(2)=0.65, P=0.72) or allele (Chi(2)=0.48, P=0.49). Similarly, we did not find evidence to suggest an association between PTPRC C772T by genotype (Chi(2)=1.06, P=0.59) or allele (Chi(2)=0.20, P=0.66). Linkage disequilibrium (LD) analysis showed strong linkage disequilibrium between the two tested markers (D'=0.9970, SD=0.0385). This study reveals no evidence to suggest that these markers are associated with MS in the tested Australian Caucasian population. Although the PTPRC gene has a significant role in regulating CD4+ and CD8+ autoreactive T-cells, interferon-beta responsiveness, and potentially other important processes, our study does not support a role for the two tested variants of this gene in MS susceptibility in the Australian population.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Feb
pubmed:issn
1872-6240
pubmed:author
pubmed:issnType
Electronic
pubmed:day
19
pubmed:volume
1255
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
148-52
pubmed:meshHeading
pubmed:year
2009
pubmed:articleTitle
An investigation of the C77G and C772T variations within the human protein tyrosine phosphatase receptor type C gene for association with multiple sclerosis in an Australian population.
pubmed:affiliation
Genomics Research Centre, Griffith Institute for Health and Medical Research, School of Medical Science, Griffith University, Gold Coast campus, PMB50 GCMC Qld 9726, Queensland, Australia. a.szvetko@griffith.edu.au
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't