title: A functional Ser(413)/Ser(413) PAI-2 polymorphism is associated with susceptibility and damage index score in systemic lupus erythematosus.
abstract: Systemic lupus erythematosus in some cases is characterized for development of thrombotic events with a significantly increased risk of mortality. The frequencies and clinical associations of Ser(413)/Cys(413) PAI-2 polymorphism in 40 systemic lupus erythematosus, 50 rheumatoid arthritis patients, and 100 healthy subjects were investigated. The Ser(413)/Ser(413) genotype frequency was 53% (lupus), 36% (rheumatoid arthritis), and 35% (healthy subjects). The Ser(413) allele was associated with systemic lupus erythematosus (P = .04, odds ratio = 1.76, 95% confidence interval = 1.01-3.06). In all, 4 patient carriers of Ser(413)/Ser(413) genotype, developed thrombotic events. The lupus patients identified with Ser( 413)/Ser(413) genotype showed an increased damage (57%), compared with Ser(413)/Cys(413) and Cys(413)/Cys(413) genotypes, with significant difference (P = .03). These findings suggest an association of Ser( 413) /Ser( 413) genotype with greater damage index score and Ser( 413) allele with systemic lupus erythematosus. Besides, PAI-2 polymorphism could be related with thrombotic phenomena in systemic lupus erythematosus.
authors.affiliation: Instituto de Investigación en Reumatología y del Sistema Músculo Esquelético (RSME), Departamento de Biología Molecular y Genómica, Centro Universitario de Ciencias de la Salud, University of Guadalajara, Jalisco.
authors.forename: Claudia A
authors.initials: CA
authors.lastname: Palafox-Sánchez
authors.forename: Mónica
authors.initials: M
authors.lastname: Vázquez-Del Mercado
authors.forename: Gerardo
authors.initials: G
authors.lastname: Orozco-Barocio
authors.forename: Ignacio
authors.initials: I
authors.lastname: García-De la Torre
authors.forename: Norma
authors.initials: N
authors.lastname: Torres-Carrillo
authors.forename: Nora M
authors.initials: NM
authors.lastname: Torres-Carrillo
authors.forename: Berenice
authors.initials: B
authors.lastname: Illades-Aguiar
authors.forename: José F
authors.initials: JF
authors.lastname: Muñoz-Valle
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000483:Alleles; D001172:Arthritis, Rheumatoid / Q000097:blood / Q000235:genetics / Q000473:pathology; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000097:blood / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D017396:Plasminogen Activator Inhibitor 2 / Q000235:genetics*; D011110:Polymorphism, Genetic; D012720:Severity of Illness Index; D055815:Young Adult
chemical_list: D017396:Plasminogen Activator Inhibitor 2