TY - JOUR T1 - Association Study of <em>ITGAM</em>, <em>ITGAX</em>, and <em>CD58</em> Autoimmune Risk Loci in Systemic Sclerosis: Results from 2 Large European Caucasian Cohorts JF - The Journal of Rheumatology JO - J Rheumatol DO - 10.3899/jrheum.101053 SP - jrheum.101053 AU - Baptiste Coustet AU - Sandeep K. Agarwal AU - Pravitt Gourh AU - Mickael Guedj AU - Maureen D. Mayes AU - Philippe Dieude AU - Julien Wipff AU - Jerome Avouac AU - Eric Hachulla AU - Elisabeth Diot AU - Jean Luc Cracowski AU - Kiet Tiev AU - Jean Sibilia AU - Luc Mouthon AU - Camille Frances AU - Zahir Amoura AU - Patrick Carpentier AU - Olivier Meyer AU - Andre Kahan AU - Catherine Boileau AU - Frank C. Arnett AU - Yannick Allanore Y1 - 2011/03/01 UR - http://www.jrheum.org/content/early/2011/02/24/jrheum.101053.abstract N2 - 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. ER -