Evaluation of interleukin 13 polymorphisms in systemic sclerosis
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Systemic sclerosis (SSc) is a multisystem disease of unknown etiology. It is characterized by excessive cutaneous and visceral fibrosis, damage to small blood vessels, and production of autoantibodies. Interleukin-13 (IL-13) has been shown to be involved in abnormal fibrosis in other diseases. Therefore, we have evaluated its possible involvement in SSc. We analyzed four IL13 gene polymorphisms, rs1800925 (IL13-1055), rs20541 (Arg130Gln), rs847, and rs2243204 in 107 unrelated SSc patients (40 patients having diffuse cutaneous form and 67 patients having limited cutaneous form) and in 170 controls. All subjects were Caucasians. In the total patient population and in the diffuse cutaneous subset, we observed an association between two IL13 polymorphisms, IL13 rs1800925 (IL13-1055), and IL13 rs2243204, and disease (p=0.03–0.04). The IL13 rs2243204T allele was more common in SSc patients (p=0.01, OR=2.3 CI 1.21–4.38) and in the diffuse cutaneous form (p=0.01, OR=2.95, CI 1.35–6.49) than in control subjects. Our result supports the suggestion that polymorphisms in IL13 are associated to SSc and skin fibrosis process. However, further studies on larger and independent population and functional analyses are needed to confirm these findings.
KeywordsSystemic sclerosis Interleukin-13 IL13 gene Fibrosis Polymorphisms
We thank Dr Howard Cann for providing the CEPH reference population DNAs. We thank Pascale David, Ruth Zbili and Anne-Marie Dombey, all medical doctors working in the “Etablissement Français du Sang-Alpes-Méditerranée” for providing healthy blood donors samples. This work was financially supported by INSERM, the Association des Sclérodermiques de France (ASF) with the Groupe Français de Recherche sur la Sclérodermie (GFRS) and by the Assistance Publique-Hôpitaux de Marseille (APHM) (AORC 2004).
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