Back to Search
Start Over
Genome-wide association study of systemic sclerosis identifies **CD247** as a new susceptibility locus
- Source :
- Nature genetics, Nature Genetics, 42(5), 426, Digital.CSIC. Repositorio Institucional del CSIC, instname, Nature Genetics, 42, 5, pp. 426-9, Nature Genetics, 42, 426-9, Nature Genetics, Vol. 42, no. 5, p. 426-429 (2010)
- Publication Year :
- 2010
-
Abstract
- 4 páginas, 2 figuras, 2 tablas.-- Spanish Scleroderma Group.<br />Systemic sclerosis (SSc) is an autoimmune disease characterized by fibrosis of the skin and internal organs that leads to profound disability and premature death. To identify new SSc susceptibility loci, we conducted the first genome-wide association study in a population of European ancestry including a total of 2,296 individuals with SSc and 5,171 controls. Analysis of 279,621 autosomal SNPs followed by replication testing in an independent case-control set of European ancestry (2,753 individuals with SSc (cases) and 4,569 controls) identified a new susceptibility locus for systemic sclerosis at CD247 (1q22–23, rs2056626, P = 2.09 × 10−7 in the discovery samples, P = 3.39 × 10−9 in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 × 10−18), IRF5 (P = 1.86 × 10−13) and STAT4 (P = 3.37 × 10−9) gene regions as SSc genetic risk factors.<br />This work was supported by the following grants: T.R.D.J.R. was funded by the VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). J.M. was funded by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 from Junta de Andalucía, Spain and in part by Redes Temáticas de Investigación Cooperativa Sanitaria Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), Spain (J.M.). R.B. is supported by the I3P Consejo Superior de Investigaciones Científicas program funded by the 'Fondo Social Europeo'. B.Z.A. is supported by the Netherlands Organization for Health Research and Development (ZonMW grant 016.096.121). B.K. is supported by the Dutch Diabetes Research Foundation (grant 2008.40.001) and the Dutch Arthritis Foundation (Reumafonds, grant NR 09-1-408). Genotyping of the Dutch control samples was sponsored by US National Insitutes of Mental Health funding, R01 MH078075 (R.O.A.). The German controls were from the PopGen biobank (to B.K.).
- Subjects :
- Adult
Male
Systemic disease
CD3 Complex
CD247
Population
Antigens, CD3 - genetics
Genome-wide association study
Single-nucleotide polymorphism
Biology
Auto-immunity, transplantation and immunotherapy [N4i 4]
Article
Cohort Studies
Genomic disorders and inherited multi-system disorders [IGMD 3]
Molecular epidemiology [NCEBP 1]
Risk Factors
Odds Ratio
Genetics
medicine
Humans
Genetic Predisposition to Disease
Health care ethics [NCEBP 5]
education
skin and connective tissue diseases
Aged
education.field_of_study
Scleroderma, Systemic
Lupus erythematosus
integumentary system
Multiple sclerosis
Scleroderma, Systemic - genetics
Middle Aged
medicine.disease
Europe
Evaluation of complex medical interventions [NCEBP 2]
Case-Control Studies
Immunology
Female
cd4 t-cells lupus-erythematosus functional polymorphism japanese population cd3-zeta expression complex risk scleroderma mechanisms phenotype
Human medicine
Infection and autoimmunity [NCMLS 1]
IRF5
Genome-Wide Association Study
Subjects
Details
- Language :
- English
- ISSN :
- 10614036
- Database :
- OpenAIRE
- Journal :
- Nature genetics
- Accession number :
- edsair.doi.dedup.....a001377c960c621034c2e721e9e79d1e