title: Association between polymorphisms in the TNF region and systemic lupus erythematosus in the Italian population.
abstract: The purpose of this work was to the hypothesis that MHC encoded susceptibility factors for SLE lie in the TNF region. An association study was performed by analyzing 123 northern Italian SLE patients and 199 matched controls for three TNF markers: two polymorphisms in the TNFA promoter and the TNFa microsatellite. Haplotypic combinations of TNF markers were also compared in patients and controls. No significant association was observed considering either the whole SLE panel or SLE clinical and immunological subtypes. Three TNF-238/A homozygous patients were detected, while no homozygote was present in controls. The clinical and immunological phenotype of the three -238/A homozygotes suggests that the -238/AA genotype is a marker of a particular clinical subtype.
authors.affiliation: Dipartimento di Scienze Mediche, Novara, Universita' di Torino, Milano, Italy.
authors.forename: S
authors.initials: S
authors.lastname: D'Alfonso
authors.forename: G
authors.initials: G
authors.lastname: Colombo
authors.forename: S
authors.initials: S
authors.lastname: Della Bella
authors.forename: R
authors.initials: R
authors.lastname: Scorza
authors.forename: P
authors.initials: P
authors.lastname: Momigliano-Richiardi
mesh_terms: D020022:Genetic Predisposition to Disease; D006801:Humans; D007558:Italy; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008285:Major Histocompatibility Complex / Q000235:genetics; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D014409:Tumor Necrosis Factor-alpha