Interleukin-1 gene complex polymorphisms in systemic sclerosis patients with severe restrictive lung physiology

No evidence for a role of the proximal IL‐6 G/C ‐174 single nucleotide polymorphism in Italian patients with systemic sclerosis

“…In a recent issue of the JCMM, Sfrent‐Cornateanu et al [1] described an association between the G/A single nucleotide polymorphism (SNP) in the position ‐597 of the IL‐6 gene, with disease activity and disability, but not with the disease per se, in 20 systemic sclerosis (SSc) patients.The idea of a disease‐modifying, ‐rather than a disease‐susceptibility, point mutation is intriguing and in line with others findings in the context of SSc [2–5]. Nonetheless, the inability to depict such an association could be attributable to the low number of subjects and indeed the possibility of a type II error in such a small group of patients is more than remote.…”

Unraveling the genetic component of systemic sclerosis

“…Analysis of genetic polymorphisms associated with diVerent connective tissue Wbrotic disorders, such as morphea and primary biliary cirrhosis, might increase our understanding of the causes for SSc excessive collagen deposition. Since Wbrosis of the internal organs, especially the lungs, is a main clinical concern, genetic studies have recently included stratiWcation by lung Wbrosis status of the patients: CD226 (with reported signiWcant associations with SSc, dcSSc, ATA positive patients and SSc-related Wbrosing alveolitis); NLR family pyrin domain containing 1, NLRP1 (risk factor for ATA positive status and Wbrosing alveolitis development in SSc patients), matrix metalloproteinase 12, MMP12, and Toll-like receptor 2, TLR2 (both associated with dcSSc, ATA positive status and lung Wbrosis) and IL1B (associated with restrictive lung physiology) (Dieude et al 2011b, c;Manetti et al 2010;Broen et al 2011;Beretta et al 2007). …”

Association of Interleukin 1α Promoter Polymorphism (–889C/T) with Susceptibility to Systemic Sclerosis

“…Kawaguchi, et al 6 found that the frequencies and carriage rates of allele T at -889 were negatively associated with SSc in a Japanese population. By contrast, this association was not replicated in the study by Beretta and colleagues in an Italian population 7 .…”