title: Evaluation of interleukin 13 polymorphisms in systemic sclerosis.
abstract: 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.
authors.affiliation: Laboratoire d'Immunologie et de Génétique des Maladies Parasitaires, UMR 399 INSERM, Université de la Méditerranée, Faculté de Médecine, 13005, Marseille, France. brigitte.granel@medecine.univ-mrs.fr
authors.forename: Brigitte
authors.initials: B
authors.lastname: Granel
authors.forename: Christophe
authors.initials: C
authors.lastname: Chevillard
authors.forename: Yannick
authors.initials: Y
authors.lastname: Allanore
authors.forename: Violaine
authors.initials: V
authors.lastname: Arnaud
authors.forename: Sandrine
authors.initials: S
authors.lastname: Cabantous
authors.forename: Sandrine
authors.initials: S
authors.lastname: Marquet
authors.forename: Pierre-Jean
authors.initials: PJ
authors.lastname: Weiller
authors.forename: Jean-Marc
authors.initials: JM
authors.lastname: Durand
authors.forename: Jean-Robert
authors.initials: JR
authors.lastname: Harlé
authors.forename: Claire
authors.initials: C
authors.lastname: Grange
authors.forename: Yves
authors.initials: Y
authors.lastname: Frances
authors.forename: Philippe
authors.initials: P
authors.lastname: Berbis
authors.forename: Jean
authors.initials: J
authors.lastname: Gaudart
authors.forename: Philippe
authors.initials: P
authors.lastname: de Micco
authors.forename: André
authors.initials: A
authors.lastname: Kahan
authors.forename: Alain
authors.initials: A
authors.lastname: Dessein
mesh_terms: D000368:Aged; D016022:Case-Control Studies; D005260:Female; D005355:Fibrosis; D006801:Humans; D018793:Interleukin-13 / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D012595:Scleroderma, Systemic / Q000097:blood / Q000235:genetics*; D012867:Skin / Q000473:pathology
chemical_list: D018793:Interleukin-13