title: Interleukin-6 promoter polymorphism -174 G/C is associated with nephritis in Portuguese Caucasian systemic lupus erythematosus patients.
abstract: Interleukin-6 (IL-6) is a multifunctional cytokine with an important pathophysiological role in systemic lupus erythematosus (SLE). The polymorphism of the IL-6 gene promoter at position -174, which appears to influence the production of this cytokine, has been associated with susceptibility to some rheumatic diseases. The aim of this study is to investigate whether the IL-6 -174 G/C polymorphism associates with lupus susceptibility or affects disease characteristics in Portuguese patients with SLE. The association between -174 G/C and lupus diagnosis was studied in 115 adult SLE patients (95.7% females) and 152 healthy controls (94.7% females), all Caucasians. There were no significant differences in genotype or allele frequency between patients and controls. The -174 C/C genotype was independently associated with renal disease and the C allele with the presence of irreversible damage. The IL-6 gene promoter polymorphism at position -174 does not contribute to SLE susceptibility in Portuguese Caucasian patients but may predispose to specific manifestations of the disease.
authors.affiliation: Rheumatology Research Unit, Instituto de Medicina Molecular, Faculdade de Medicina da Universidade de Lisboa, Lisbon, Portugal. mjps@netvisao.pt
authors.forename: Maria José
authors.initials: MJ
authors.lastname: Santos
authors.forename: Diana
authors.initials: D
authors.lastname: Fernandes
authors.forename: Susana
authors.initials: S
authors.lastname: Capela
authors.forename: Jose Canas
authors.initials: JC
authors.lastname: da Silva
authors.forename: João Eurico
authors.initials: JE
authors.lastname: Fonseca
mesh_terms: D017668:Age of Onset; D005260:Female; D006801:Humans; D015850:Interleukin-6 / Q000235:genetics*; D008180:Lupus Erythematosus, Systemic / Q000150:complications / Q000235:genetics* / Q000276:immunology*; D008297:Male; D009393:Nephritis / Q000150:complications* / Q000235:genetics*; D011110:Polymorphism, Genetic; D011174:Portugal; D011401:Promoter Regions, Genetic; D044465:White People
chemical_list: D015850:Interleukin-6