PTPN22 is not associated with Behçet's disease. Study spanning the complete gene region in the Spanish population and meta-analysis of the functional variant R620W.
Clin Exp Rheumatol
; 34(6 Suppl 102): S41-S45, 2016.
Article
em En
| MEDLINE
| ID: mdl-27050764
ABSTRACT
OBJECTIVES:
The functional variant R620W of the protein tyrosine phosphatase non receptor-22 (PTPN22) gene plays an important role in susceptibility to several immuno-mediated pathologies. Behçet's disease (BD) is a complex disease related to the immune system with a demonstrated genetic base. The HLA class I genes are the most important genetic factors in BD although other genes are also involved in the susceptibility to this disease. The PTPN22 has been proposed as a candidate gene in BD but this association has not been clearly demonstrated yet. The aim of this study was to assess the association of PTPN22 with BD.METHODS:
A cohort composed of 404 Spanish BD patients and 1517 unrelated healthy individuals ethnically matched was genotyped in rs2476601 (R620W). Five tag SNPs rs1217412, rs2476599, rs3789607, rs3765598 and rs1217419 (spanning a 57 Kb region between 3'UTR and 5'UTR) and rs2488457 (located at the promoter region) were also studied in order to perform a screening of the complete gene. Genotyping was performed using TaqMan® assays. The rs2476601 data were included in a meta-analysis together with those published till the date. The rest of SNPs were used in a case-control study.RESULTS:
No evidence of the association of rs2476601 with BD in the meta-analysis (P = 0.504 in the model of alleles) was found. In the case-control study, no statistically significant differences were observed when comparing the distribution of variants in patients and controls.CONCLUSIONS:
Our results do not support a major role of the PTPN22 gene in BD.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Síndrome de Behçet
/
Polimorfismo de Nucleotídeo Único
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Proteína Tirosina Fosfatase não Receptora Tipo 22
Tipo de estudo:
Clinical_trials
/
Diagnostic_studies
/
Etiology_studies
/
Observational_studies
/
Prognostic_studies
/
Risk_factors_studies
/
Systematic_reviews
Limite:
Female
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Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Revista:
Clin Exp Rheumatol
Ano de publicação:
2016
Tipo de documento:
Article