The FAS -670AG polymorphism influences susceptibility to systemic sclerosis phenotypes
| Autor: | J, Broen, P, Gourh, B, Rueda, M, Coenen, M, Mayes, J, Martin, F C, Arnett, T R D J, Radstake |
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| Rok vydání: | 2009 |
| Předmět: |
Male
medicine.medical_specialty Adenosine Genotype Immunology Biology Auto-immunity transplantation and immunotherapy [N4i 4] Gastroenterology Polymorphism Single Nucleotide Article Genomic disorders and inherited multi-system disorders [IGMD 3] Molecular epidemiology [NCEBP 1] Rheumatology Scleroderma Limited Internal medicine medicine Genetic predisposition Immunology and Allergy Humans Pharmacology (medical) Genetic Predisposition to Disease fas Receptor Allele Promoter Regions Genetic Allele frequency Genotyping Guanosine Odds ratio Middle Aged Fas receptor Phenotype Cohort Scleroderma Diffuse Female Infection and autoimmunity [NCMLS 1] |
| Zdroj: | Arthritis and Rheumatism, 60, 12, pp. 3815-20 Arthritis and Rheumatism, 60, 3815-20 |
| ISSN: | 0004-3591 |
| Popis: | Contains fulltext : 81350.pdf (Publisher’s version ) (Closed access) OBJECTIVE: To investigate the possible role of the FAS -670A>G functional polymorphism in the genetic predisposition to systemic sclerosis (SSc) susceptibility or clinical phenotype. METHODS: A total of 2,900 SSc patients and 3,186 healthy controls were included in this study. We analyzed the genotype and allele frequencies of the FAS -670A>G polymorphism in 9 distinct ethnic cohorts, including 6 cohorts of European ancestry (a Spanish cohort of 228 SSc patients and 265 controls, a Dutch cohort of 203 SSc patients and 277 controls, a German cohort of 313 SSc patients and 247 controls, an Italian cohort of 323 SSc cases and 89 controls, a British cohort of 269 SSc patients, and a Swedish cohort of 182 patients) and 3 distinct ethnic cohorts from the US (a cohort of 1,047 white patients and 692 controls, a cohort of 159 Hispanic patients and 137 controls, and a cohort of 176 black SSc patients and 194 controls). Genotyping was performed using a TaqMan 5' allelic discrimination assay. RESULTS: In the British, Italian, and American white cohorts we observed an association of the FAS -670G allele with limited cutaneous SSc (lcSSc) (odds ratios [ORs] 1.25, 1.43, and 1.18, respectively). A meta-analysis comprising all 9 cohorts revealed an association of both the FAS -670G allele (OR 1.10) and the FAS -670GG genotype (OR 1.13) with the lcSSc phenotype. In a meta-analysis including only white subjects, both the FAS -670G allele and the FAS -670GG genotype remained associated with lcSSc (allele OR 1.12; genotype OR 1.16). In addition, a recessive model of the -670GG genotype exhibited a strong association with SSc, lcSSc, and anticentromere antibody-positive lcSSc (OR 1.23, OR 1.33, and OR 1.45, respectively). CONCLUSION: Our data show that the FAS -670A>G polymorphism plays a role in lcSSc susceptibility. A similar trend has been observed in other autoimmune diseases. |
| Databáze: | OpenAIRE |
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