title: 4G/5G plasminogen activator inhibitor-1 and -308 A/G tumor necrosis factor-α promoter gene polymorphisms in Argentinean lupus patients: focus on lupus nephritis.
abstract: We investigated the relationship between the 4G/5G plasminogen activator inhibitor (PAI-1) and -308 A/G tumor necrosis factor-α (TNF-α) polymorphisms and the clinical and biochemical features of systemic lupus erythematosus (SLE) in an Argentinean patient cohort. A total of 402 patients were studied, including 179 SLE patients and 223 healthy individuals. PCR-RLFP was used to determine the genotypes of the 4G/5G PAI-1 and -308 A/G TNF-α polymorphisms. SLE patients with lupus nephritis (LN) (n = 86) were compared with patients without LN (n = 93). Additionally, LN patients were divided into proliferative LN and non-proliferative LN groups according to the results of the renal biopsies. No significant differences were noted in the genotype distributions or allele frequencies of these TNF-α and PAI-1 polymorphisms between SLE patients and controls. There were higher numbers of criteria for SLE, more lupus flares and higher damage scores in LN patients, but there were similar frequencies of anti-phospholipid antibody (APA) positivity and anti-phospholipid syndrome. No significant difference was noted for any studied variable between the proliferative LN and non-proliferative LN groups except for the presence of APA. We found no significant differences in the TNF-α and PAI-1 genotype distributions or allele frequencies between groups. We found that the -308 A/G TNF-α and 4G/5G PAI-1 polymorphisms are not associated with susceptibility to SLE in an Argentinean population. We also did not find any association between the presence of any specific allele or genotype and the development of LN in SLE patients. Finally, no association was noted between either of the two polymorphisms and the severity of renal disease.
authors.affiliation: Department of Internal Medicine, Hospital General de Agudos Dr. J. A. Fernández, Buenos Aires, Argentina.
authors.forename: Sebastián Andrés
authors.initials: SA
authors.lastname: Muñoz
authors.forename: Federico
authors.initials: F
authors.lastname: Aranda
authors.forename: Alberto
authors.initials: A
authors.lastname: Allievi
authors.forename: Alberto Omar
authors.initials: AO
authors.lastname: Orden
authors.forename: Silvia
authors.initials: S
authors.lastname: Perés Wingeyer
authors.forename: Rosana
authors.initials: R
authors.lastname: Trobo
authors.forename: Analía
authors.initials: A
authors.lastname: Alvarez
authors.forename: Alicia
authors.initials: A
authors.lastname: Eimon
authors.forename: Juan Carlos
authors.initials: JC
authors.lastname: Barreira
authors.forename: Emilce
authors.initials: E
authors.lastname: Schneeberger
authors.forename: Fernando
authors.initials: F
authors.lastname: Dal Pra
authors.forename: Judith
authors.initials: J
authors.lastname: Sarano
authors.forename: Julio
authors.initials: J
authors.lastname: Hofman
authors.forename: Julián
authors.initials: J
authors.lastname: Chamorro
authors.forename: Gabriela
authors.initials: G
authors.lastname: de Larrañaga
mesh_terms: D000328:Adult; D001118:Argentina; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D005838:Genotype; D060005:Genotyping Techniques; D006801:Humans; D008181:Lupus Nephritis / Q000235:genetics* / Q000276:immunology*; D008297:Male; D008875:Middle Aged; D017395:Plasminogen Activator Inhibitor 1 / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic; D014409:Tumor Necrosis Factor-alpha / Q000235:genetics*
chemical_list: D017395:Plasminogen Activator Inhibitor 1; C051321:SERPINE1 protein, human; D014409:Tumor Necrosis Factor-alpha