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

Nat Genet 2010 May 11;42(5):426-9. Epub 2010 Apr 11.

Department of Rheumatology, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands.

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.

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May 2010
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References

(Supplied by CrossRef)

A Gabrielli et al.
N. Engl. J. Med. 2009

SA Jimenez et al.
Ann. Intern. Med. 2004

SK Agarwal et al.
Rheum. Dis. Clin. North Am. 2008

B Rueda et al.
Hum. Mol. Genet. 2009

N Tsuchiya et al.
Ann. Rheum. Dis. 2009

I Ito et al.
Arthritis Rheum. 2009

P Dieudé et al.
Arthritis Rheum. 2009

PK Gregersen et al.
Annu. Rev. Immunol. 2009

DJ Hunter et al.
Nat. Genet. 2007

M Yeager et al.
Nat. Genet. 2007

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