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Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus

(2010) NATURE GENETICS. 42(5). p.426-429
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Abstract
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 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.
Keywords
SCLERODERMA, PHENOTYPE, RISK, CD3-ZETA EXPRESSION, JAPANESE POPULATION, FUNCTIONAL POLYMORPHISM, LUPUS-ERYTHEMATOSUS, CD4 T-CELLS, COMPLEX, MECHANISMS

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Citation

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Chicago
Radstake, Timothy RDJ, Olga Gorlova, Blanca Rueda, Jose-Ezequiel Martin, Behrooz Z Alizadeh, Rogelio Palomino-Morales, Marieke J Coenen, et al. 2010. “Genome-wide Association Study of Systemic Sclerosis Identifies CD247 as a New Susceptibility Locus.” Nature Genetics 42 (5): 426–429.
APA
Radstake, T. R., Gorlova, O., Rueda, B., Martin, J.-E., Alizadeh, B. Z., Palomino-Morales, R., Coenen, M. J., et al. (2010). Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. NATURE GENETICS, 42(5), 426–429.
Vancouver
1.
Radstake TR, Gorlova O, Rueda B, Martin J-E, Alizadeh BZ, Palomino-Morales R, et al. Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus. NATURE GENETICS. 2010;42(5):426–9.
MLA
Radstake, Timothy RDJ, Olga Gorlova, Blanca Rueda, et al. “Genome-wide Association Study of Systemic Sclerosis Identifies CD247 as a New Susceptibility Locus.” NATURE GENETICS 42.5 (2010): 426–429. Print.
@article{1002796,
  abstract     = {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 x 10(-7) in the discovery samples, P = 3.39 x 10(-9) in the combined analysis). Additionally, we confirm and firmly establish the role of the MHC (P = 2.31 x 10(-18)), IRF5 (P = 1.86 x 10(-13)) and STAT4 (P = 3.37 x 10(-9)) gene regions as SSc genetic risk factors.},
  author       = {Radstake, Timothy RDJ and Gorlova, Olga and Rueda, Blanca and Martin, Jose-Ezequiel and Alizadeh, Behrooz Z and Palomino-Morales, Rogelio and Coenen, Marieke J and Vonk, Madelon C and Voskuyl, Alexandre E and Schuerwegh, Annemie J and Broen, Jasper C and van Riel, Piet LCM and van't Slot, Ruben and Italiaander, Annet and Ophoff, Roel A and Riemekasten, Gabriela and Hunzelmann, Nico and Simeon, Carmen P and Ortego-Centeno, Norberto and Gonzalez-Gay, Miguel A and Gonzalez-Escribano, Maria F and Airo, Paolo and van Laar, Jaap and Herrick, Ariane and Worthington, Jane and Hesselstrand, Roger and Smith, Vanessa and De Keyser, Filip and Houssiau, Fredric and Chee, Meng May and Madhok, Rajan and Shiels, Paul and Westhovens, Rene and Kreuter, Alexander and Kiener, Hans and De Baere, Elfride and Witte, Torsten and Padykov, Leonid and Klareskog, Lars and Beretta, Lorenzo and Scorza, Rafaella and Lie, Benedicte A and Hoffmann-Vold, Anna-Maria and Carreira, Patricia and Varga, John and Hinchcliff, Monique and Gregersen, Peter K and Lee, Annette T and Ying, Jun and Han, Younghun and Weng, Shih-Feng and Amos, Christopher I and Wigley, Fredrick M and Hummers, Laura and Nelson, J Lee and Agarwal, Sandeep K and Assassi, Shervin and Gourh, Pravitt and Tan, Filemon K and Koeleman, Bobby PC and Arnett, Frank C and Martin, Javier and Mayes, Maureen D},
  issn         = {1061-4036},
  journal      = {NATURE GENETICS},
  language     = {eng},
  number       = {5},
  pages        = {426--429},
  title        = {Genome-wide association study of systemic sclerosis identifies CD247 as a new susceptibility locus},
  url          = {http://dx.doi.org/10.1038/ng.565},
  volume       = {42},
  year         = {2010},
}

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