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Association of a non-synonymous functional variant of the ITGAM gene with systemic sclerosis

2011; BMJ; Volume: 70; Issue: 11 Linguagem: Inglês

10.1136/ard.2010.148874

1468-2060

F. David Carmona, Carmen Pilar Simeón‐Aznar, Lorenzo Beretta, Patrícia Carreira, Madelon C Vonk, Raquel Ríos-Fernández, Gerard Espinosa, N Navarrete, Esther F. Vicente‐Rabaneda, Luis Rodríguez‐Rodríguez, Carlos Tolosa, Francisco José García Hernández, I. Castellví, M. V. Egurbide, V Fonollosa, Miguel Á. González‐Gay, Mónica Rodríguez‐Carballeira, Federico Díaz‐González, Luis Sáez‐Comet, Roger Hesselstrand, Gabriela Riemekasten, Torsten Witte, Alexandre E. Voskuyl, Annemie J. Schuerwegh, Rajan Madhok, Paul G. Shiels, Carmen Fonseca, Christopher P. Denton, Annica Nordin, Øyvind Palm, A. M. Hoffmann-Vold, Paolo Airò, R Scorza, Claudio Lunardi, Jacob M. van Laar, N. Hunzelmann, Alexander Kreuter, Ariane L. Herrick, Jane Worthington, Bobby P. C. Koeleman, TRDJ Radstake, Javier Martı́n,

Skin and Cellular Biology Research

Systemic sclerosis (SSc) is a chronic fibrotic autoimmune disease of complex aetiology which shares genetic similarities with systemic lupus erythematosus (SLE).1 2 One of the novel risk loci that have been recently associated with SLE is the integrin α M ( ITGAM ) gene, which encodes the α subunit of the αMβ2-integrin.3 4 The most likely causal polymorphism that best explains this association is a non-synonymous single-nucleotide polymorphism (SNP) at the exon 3, rs1143679, which changes the 77th amino acid residue arginine to histidine (R77H). This functional SNP represents one of the highest associated signals with SLE and is predicted to alter the structure and function of the integrin.4 5 To determine whether ITGAM rs1143679 is also associated with SSc susceptibility and clinical manifestations, we genotyped a total of 3735 SSc patients and 3930 matched healthy individuals from seven independent European cohorts of Caucasian origin (Spain, Germany, The Netherlands, Italy, Norway, Sweden and UK) using a predesigned TaqMan® assay (ID: C\__\_|2847895\_1_) in an ABI 7900HT (both from Applied Biosystems, Foster City, California, USA). Case …