BANK1 functional variants are associated with susceptibility to diffuse systemic sclerosis in Caucasians
| Autor: | Madelon C. Vonk, L. Beretta, Antonio Fernández-Nebro, Shervin Assassi, Norberto Ortego-Centeno, M. J. H. Coenen, Roger Hesselstrand, Javier Martin, Sandeep K. Agarwal, Francisco J. García-Hernández, T. Nearney, Blanca Rueda, R. Scorza, Gabriela Riemekasten, M. T. Camps, J. C. A. Broen, P. García de la Peña, P. Airo, Maureen D. Mayes, Pravitt Gourh, C. P. Simeon, D. Hilda, Frank C. Arnett, John D. Reveille, Patricia Carreira, M. A. Gonzalez-Gay, Filemon K. Tan, N. Hunzelmann, Trdj Radstake |
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| Rok vydání: | 2010 |
| Předmět: |
medicine.medical_specialty
Genotype Immunology Single-nucleotide polymorphism Polymorphism Single Nucleotide Gastroenterology Auto-immunity transplantation and immunotherapy [N4i 4] White People Article General Biochemistry Genetics and Molecular Biology Genomic disorders and inherited multi-system disorders [IGMD 3] Molecular epidemiology [NCEBP 1] Gene Frequency Rheumatology Internal medicine Genetic predisposition Humans Immunology and Allergy Medicine Genetic Predisposition to Disease Allele Health care ethics [NCEBP 5] Allele frequency Adaptor Proteins Signal Transducing Autoantibodies business.industry Haplotype Case-control study Membrane Proteins Genetic marker Evaluation of complex medical interventions [NCEBP 2] Case-Control Studies Scleroderma Diffuse business |
| Zdroj: | Annals of the Rheumatic Diseases, 69, 4, pp. 700-5 Annals of the Rheumatic Diseases, 69, 700-5 |
| ISSN: | 0003-4967 |
| DOI: | 10.1136/ard.2009.118174 |
| Popis: | Contains fulltext : 88471.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate the possible association of the BANK1 gene with genetic susceptibility to systemic sclerosis (SSc) and its subphenotypes. METHODS: A large multicentre case-control association study including 2380 patients with SSc and 3270 healthy controls from six independent case-control sets of Caucasian ancestry (American, Spanish, Dutch, German, Swedish and Italian) was conducted. Three putative functional BANK1 polymorphisms (rs17266594 T/C, rs10516487 G/A, rs3733197 G/A) were selected as genetic markers and genotyped by Taqman 5 allelic discrimination assay. RESULTS: A significant association of the rs10516487 G and rs17266594 T alleles with SSc susceptibility was observed (pooled OR=1.12, 95% CI 1.03 to 1.22; p=0.01 and pooled OR=1.14, 95% CI 1.05 to 1.25; p=0.003, respectively), whereas the rs3733197 genetic variant showed no statistically significant deviation. Stratification for cutaneous SSc phenotype showed that the BANK1 rs10516487 G, rs17266594 T and rs3733197 G alleles were strongly associated with susceptibility to diffuse SSc (dcSSc) (pooled OR=1.20, 95% CI 1.05 to 1.37, p=0.005; pooled OR=1.23, 95% CI 1.08 to 1.41, p=0.001; pooled OR=1.15, 95% CI 1.02 to 1.31, p=0.02, respectively). Similarly, stratification for specific SSc autoantibodies showed that the association of BANK1 rs10516487, rs17266594 and rs3733197 polymorphisms was restricted to the subgroup of patients carrying anti-topoisomerase I antibodies (pooled OR=1.20, 95% CI 1.02 to 1.41, p=0.03; pooled OR=1.24, 95% CI 1.05 to 1.46, p=0.01; pooled OR=1.26, 95% CI 1.07 to 1.47, p=0.004, respectively). CONCLUSION: The results suggest that the BANK1 gene confers susceptibility to SSc in general, and specifically to the dcSSc and anti-topoisomerase I antibody subsets. 01 april 2010 |
| Databáze: | OpenAIRE |
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