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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 …
Funding This work was supported by GEN-FER from the Spanish Society of Rheumatology, SAF2009-11110 from the Spanish Ministry of Science, CTS-4977 and CTS-180 from junta de Andalucía, Orphan Disease program from EULAR, RETICS Program, RD08/0075 (RIER) from Instituto de Salud Carlos III (ISCIII), EUSTAR and the German Network of Systemic Sclerosis, VIDI laureate from the Dutch Association of Research (NWO) and Dutch Arthritis Foundation (National Reumafonds). TW was granted by DFG WI 1031/6.1. FDC was supported by Consejo Superior de Investigaciones Científicas (CSIC) through the programme JAE-DOC.
Patient consent Obtained.
Ethics approval Approvals were obtained from the local ethical committees of every participant centre.
Provenance and peer review Not commissioned; externally peer reviewed.
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