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

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.

SUBMITTER: Radstake TR 

PROVIDER: S-EPMC2861917 | biostudies-literature | 2010 May

REPOSITORIES: biostudies-literature

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

Radstake Timothy R D J TR   Gorlova Olga O   Rueda Blanca B   Martin Jose-Ezequiel JE   Alizadeh Behrooz Z BZ   Palomino-Morales Rogelio R   Coenen Marieke J MJ   Vonk Madelon C MC   Voskuyl Alexandre E AE   Schuerwegh Annemie J AJ   Broen Jasper C JC   van Riel Piet L C M PL   van 't Slot Ruben R   Italiaander Annet A   Ophoff Roel A RA   Riemekasten Gabriela G   Hunzelmann Nico N   Simeon Carmen P CP   Ortego-Centeno Norberto N   González-Gay Miguel A MA   González-Escribano María F MF   Airo Paolo P   van Laar Jaap J   Herrick Ariane A   Worthington Jane J   Hesselstrand Roger R   Smith Vanessa V   de Keyser Filip F   Houssiau Fredric F   Chee Meng May MM   Madhok Rajan R   Shiels Paul P   Westhovens Rene R   Kreuter Alexander A   Kiener Hans H   de Baere Elfride E   Witte Torsten T   Padykov Leonid L   Klareskog Lars L   Beretta Lorenzo L   Scorza Rafaella R   Lie Benedicte A BA   Hoffmann-Vold Anna-Maria AM   Carreira Patricia P   Varga John J   Hinchcliff Monique M   Gregersen Peter K PK   Lee Annette T AT   Ying Jun J   Han Younghun Y   Weng Shih-Feng SF   Amos Christopher I CI   Wigley Fredrick M FM   Hummers Laura L   Nelson J Lee JL   Agarwal Sandeep K SK   Assassi Shervin S   Gourh Pravitt P   Tan Filemon K FK   Koeleman Bobby P C BP   Arnett Frank C FC   Martin Javier J   Mayes Maureen D MD  

Nature genetics 20100411 5

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 individu  ...[more]

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