RT Journal Article
SR Electronic
T1 Association Study of ITGAM, ITGAX, and CD58 Autoimmune Risk Loci in Systemic Sclerosis: Results from 2 Large European Caucasian Cohorts
JF The Journal of Rheumatology
JO J Rheumatol
FD The Journal of Rheumatology
SP 1033
OP 1038
DO 10.3899/jrheum.101053
VO 38
IS 6
A1 BAPTISTE COUSTET
A1 SANDEEP K. AGARWAL
A1 PRAVITT GOURH
A1 MICKAEL GUEDJ
A1 MAUREEN D. MAYES
A1 PHILIPPE DIEUDE
A1 JULIEN WIPFF
A1 JEROME AVOUAC
A1 ERIC HACHULLA
A1 ELISABETH DIOT
A1 JEAN LUC CRACOWSKI
A1 KIET TIEV
A1 JEAN SIBILIA
A1 LUC MOUTHON
A1 CAMILLE FRANCES
A1 ZAHIR AMOURA
A1 PATRICK CARPENTIER
A1 OLIVIER MEYER
A1 ANDRE KAHAN
A1 CATHERINE BOILEAU
A1 FRANK C. ARNETT
A1 YANNICK ALLANORE
YR 2011
UL http://www.jrheum.org/content/38/6/1033.abstract
AB Objective. Accumulating evidence shows that shared autoimmunity is critical for the pathogenesis of many autoimmune diseases. Systemic sclerosis (SSc) belongs to the connective tissue disorders, and recent data have highlighted strong associations with autoimmunity genes shared with other autoimmune diseases. To determine whether novel risk loci associated with systemic lupus erythematosus or multiple sclerosis may confer susceptibility to SSc, we tested single-nucleotide polymorphisms (SNP) from ITGAM, ITGAX, and CD58 for associations. Methods. SNP harboring associations with autoimmune diseases, ITGAM rs9937837, ITGAX rs11574637, and CD58 rs12044852, were genotyped in 2 independent cohorts of European Caucasian ancestry: 1031 SSc patients and 1014 controls from France and 1038 SSc patients and 691 controls from the USA, providing a combined study population of 3774 individuals. ITGAM rs1143679 was additionally genotyped in the French cohort. Results. The 4 polymorphisms were in Hardy-Weinberg equilibrium in the 2 control populations, and allelic frequencies were similar to those expected in European Caucasian populations. Allelic and genotypic frequencies for these 3 SNP were found to be statistically similar in SSc patients and controls. Subphenotype analyses for subgroups having diffuse cutaneous subtype disease, specific autoantibodies, or fibrosing alveolitis did not reveal any difference between SSc patients and controls. Conclusion. These results obtained through 2 large cohorts of SSc patients of European Caucasian ancestry do not support the implication of ITGAM, ITGAX, and CD58 genes in the genetic susceptibility of SSc, although they were recently identified as autoimmune disease risk genes.