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

Authors: Carmona, F.D.; Simeon, C.P.; Beretta, L.; Carreira, P.; Vonk, M.C.; Rios-Fernandez, R.; Espinosa, G.; +36 Authors

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

Abstract

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 …

Peer Reviewed

Countries
United Kingdom, Spain, Netherlands, Italy, Italy, United Kingdom
Keywords

ONCOL 3: Translational research NCMLS 2: Immune Regulation, CD11b Antigen, Scleroderma, Systemic, Case-Control Studies, NCMLS 1: Infection and autoimmunity N4i 4: Auto-immunity, transplantation and immunotherapy, Humans, systemic sclerosis; ITGAM gene, Genetic Predisposition to Disease, NCEBP 2: Evaluation of complex medical interventions N4i 4: Auto-immunity, transplantation and immunotherapy, Polymorphism, Single Nucleotide

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selected citations
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This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
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