Association study of the platelet collagen receptor glycoprotein VI gene with rheumatoid arthritis
| Autor: | Michou L, Cornélis F, Baron M, Bombardieri S, Balsa A, Westhovens R, Barrera P, Helena Alves, Tr, Radstake, Migliorini P, Bardin T, Petit-Teixeira E, Boilard E |
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| Přispěvatelé: | Laboratoire de recherche européen pour la polyarthrite rhumatoïde (GenHotel), Université d'Évry-Val-d'Essonne (UEVE), University Hospital La Paz, Madrid, Unité de Génétique Clinique Adulte, Hôpital Lariboisière-Fernand-Widal [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Division of Rheumatology, Immunology and Allergy and Partners Asthma Center, Brigham and Women's Hospital [Boston], HAL, Univ Évry |
| Jazyk: | angličtina |
| Rok vydání: | 2013 |
| Předmět: |
rheumatoid arthritis
Platelets haplotype platelets glycoprotein VI single nucleotide polymorphism Rheumatoid Arthritis Platelet Membrane Glycoproteins [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics Polymorphism Single Nucleotide Severity of Illness Index Glycoprotein VI Arthritis Rheumatoid Gene Frequency Risk Factors Rheumatoid Odds Ratio Haplotype Humans Genetic Predisposition to Disease Polymorphism Genetic Association Studies Arthritis Single Nucleotide Europe Phenotype Haplotypes [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics Evaluation of complex medical interventions Auto-immunity transplantation and immunotherapy [NCEBP 2] |
| Zdroj: | Clinical and Experimental Rheumatology, 31, 5, pp. 770-2 Clinical and experimental rheumatology Clinical and experimental rheumatology, Clinical and Experimental Rheumatology Sas, 2013, 31 (5), pp.770-772 Scopus-Elsevier Clinical and Experimental Rheumatology, 31, 770-2 CIÊNCIAVITAE Clinical and experimental rheumatology, 2013, 31 (5), pp.770-772 Europe PubMed Central |
| ISSN: | 0392-856X |
| Popis: | Item does not contain fulltext OBJECTIVES: Beyond their role in haemostasis, platelets can actively contribute to immunity. The activation of the platelet collagen receptor glycoprotein VI (GPVI) promotes the release of small extracellular vesicles called microparticles. These microparticles are found in the joint bathing fluid of patients with rheumatoid arthritis (RA) and are thought to amplify inflammation. The gene coding for GPVI is localised on chromosome 19q13.4 and contains different single nucleotide polymorphisms (SNPs). Five non-synonymous SNPs define the major and minor haplotypes of GPVI. The minor haplotype is associated with higher risk of cardiovascular incidents. In this study, we examined whether this minor haplotype is also associated with RA. METHODS: Allelic discrimination of the SNPs reported to define these haplotypes encoding SKTQH and PEALN protein isoforms, ie rs1613662, rs1654416, rs2304167, rs1654413 and rs1671152, was performed in 399 RA patients and their two parents, all of Western European ethnicity. Statistical analysis relied on the transmission disequilibrium test by the use of the FBAT programme. Haplotypes were also estimated by the FBAT programme. RESULTS: We observed no statistically significant transmission disequilibrium for the SNPs tested. The major haplotype TAAC, which encodes the SKTQH isoform, was identified in 78% of our cohort individuals, and the CGGA haplotype which encodes the PEALN isoform was identified in 8% of our individuals. We observed no association of these haplotypes of the GPVI gene with RA. CONCLUSIONS: This demonstrates that the SNPs tested within the GPVI gene are not associated with RA susceptibility and/or severity, suggesting that platelet GPVI may contribute to arthritis independently of its gene polymorphism. |
| Databáze: | OpenAIRE |
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