Document Detail

Lack of association between IFNGR1 gene polymorphisms and biopsy-proven giant cell arteritis.
MedLine Citation:
PMID:  20412699     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: Since IFN-gamma plays a pivotal role in the pathogenesis of giant cell arteritis (GCA), a polygenic primary systemic vasculitis involving elderly people from Western countries, in the present study we analysed for first time the implication of three IFN-gamma receptor (IFNGR) 1 gene variants in the susceptibility to and clinical expression of GCA. METHODS: Two hundred and sixteen biopsy-proven GCA patients and 460 matched controls were assessed. DNA from patients and controls was obtained from peripheral blood. Samples were genotyped for three single nucleotide polymorphisms (SNPs) rs1327474 (-611A/G), rs11914 (+189G7C) and rs7749390 (+95C/T) of the IFNGR1 gene using a pre-designed TaqMan allele discrimination assay. Post PCR, the genotype of each sample was attributed automatically by measuring the allelic specific fluorescence on the ABI PRISM 7900 sequence. RESULTS: No significant differences in the genotype or allele distribution between GCA patients and controls for the three IFNGR1 gene variants were found. Furthermore, no significant differences in the genotype distribution were observed when GCA patients were stratified according to the presence of specific clinical features of the disease such as polymyalgia rheumatica or severe ischemic complications including visual ischemic manifestations. CONCLUSIONS: Our results do not show an implication of IFNGR1gene polymorphisms in the susceptibility to and clinical expression of GCA.
Orlando Torres; Rogelio Palomino-Morales; Tomas Vazquez-Rodriguez; Santos Castañeda; Immaculada C Morado; Jose A Miranda-Filloy; Encarnacion Amigo-Diaz; Jose L Callejas-Rubio; Benjamin Fernandez-Gutierrez; Javier Martin; Miguel A Gonzalez-Gay
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Clinical and experimental rheumatology     Volume:  28     ISSN:  0392-856X     ISO Abbreviation:  Clin. Exp. Rheumatol.     Publication Date:    2010 Jan-Feb
Date Detail:
Created Date:  2010-04-23     Completed Date:  2010-07-06     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  8308521     Medline TA:  Clin Exp Rheumatol     Country:  Italy    
Other Details:
Languages:  eng     Pagination:  31-4     Citation Subset:  IM    
Instituto de Parasitología y Biomedicina López Neyra, Consejo Superior de Investigaciones Cientificas (CSIC), Granada, Spain.
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MeSH Terms
Aged, 80 and over
Gene Frequency
Genetic Predisposition to Disease
Genetic Variation
Giant Cell Arteritis / genetics*,  pathology*
Linkage Disequilibrium
Middle Aged
Polymorphism, Single Nucleotide*
Receptors, Interferon / genetics*
Reg. No./Substance:
0/Receptors, Interferon; 0/interferon gamma receptor

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