Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
5
pubmed:dateCreated
2010-4-19
pubmed:abstractText
Giant cell arteritis (GCA) is a complex polygenic disease in which more than one genetic locus is likely to contribute to disease susceptibility and clinical expression. In the present study, we have analyzed for first time the implication of rs13277113 and rs2736340 variants from the C8orf13-BLK gene region in the susceptibility to GCA. A total of 220 biopsy-proven GCA patients and 486 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for the C8orf13-BLK region rs13277113 and rs2736340 using a predesigned TaqMan allele discrimination assay. No significant differences in the genotype distribution between GCA patients and controls for the rs13277113 and rs2736340 C8orf13-BLK gene variants were found. GCA patients were also stratified according to the presence of specific clinical features of the disease. In this regard, the allele A of the rs13277113 variant was overrepresented in patients with severe ischemic manifestations compared with patients without severe ischemic manifestations (p = 0.04; OR =1.65; 95% CI = 0.99-2.78). In conclusion, our results do not support a major implication of the C8orf13-BLK gene region in susceptibility to GCA. However, a potential implication of the rs13277113 variant in the development of severe ischemic complications may exist.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1879-1166
pubmed:author
pubmed:copyrightInfo
Copyright 2010 American Society for Histocompatibility and Immunogenetics. Published by Elsevier Inc. All rights reserved.
pubmed:issnType
Electronic
pubmed:volume
71
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
525-9
pubmed:meshHeading
pubmed:year
2010
pubmed:articleTitle
Role of the C8orf13-BLK region in biopsy-proven giant cell arteritis.
pubmed:affiliation
Instituto de Parasitología(y) Biomedicina López Neyra, Consejo Superior de Investigaciones Cientificas (CSIC), Granada, Spain.
pubmed:publicationType
Journal Article, Research Support, Non-U.S. Gov't