title: PTPN22 1858C>T gene polymorphism in patients with SLE: association with serological and clinical results.
abstract: To assess the association between PTPN22 1858C>T gene polymorphism and susceptibility to, and clinical presentation of, systemic lupus erythematosus (SLE). Our study included 135 SLE patients (120 women and 15 men; mean age 45.1 years; mean course of disease from 0.5 to 31 years) and 201 healthy subjects. The PTPN22 1858C>T gene polymorphism was genotyped by polymerase chain reaction restriction fragment length polymorphism. A significantly higher incidence of genotype CT in patients with SLE (36.3 %) was found, compared with the control group (24.9 %). The frequencies of C1858 and T1858 alleles were 78.1 and 21.9 % in SLE patients and 86.1 and 13.9 % in controls, respectively. Significantly higher SLE susceptibility was observed in patients carrying at least one T allele (p = 0.009; OR 1.86; 95 % CI 0.14-3.05). Significant association of the PTPN22 T1858 allele (CT + TT vs.CC) and secondary antiphospholipid syndrome was observed (p = 0.049). In SLE patients carrying the T1858 allele, higher levels of antiphospholipid antibodies (anticardiolipin antibodies and/or lupus anticoagulant) were found (p = 0.030; OR 2.17; 95 % CI 1.07-4.44).
authors.affiliation: Department of Rheumatology and Internal Medicine, Pomeranian Medical University, Szczecin, Poland, ostanekl@gmail.com.
authors.forename: Lidia
authors.initials: L
authors.lastname: Ostanek
authors.forename: Magdalena
authors.initials: M
authors.lastname: Ostanek-Pańka
authors.forename: Danuta
authors.initials: D
authors.lastname: Bobrowska-Snarska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Bińczak-Kuleta
authors.forename: Katarzyna
authors.initials: K
authors.lastname: Fischer
authors.forename: Mariusz
authors.initials: M
authors.lastname: Kaczmarczyk
authors.forename: Andrzej
authors.initials: A
authors.lastname: Ciechanowicz
authors.forename: Marek
authors.initials: M
authors.lastname: Brzosko
mesh_terms: D000328:Adult; D000483:Alleles; D016022:Case-Control Studies; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006801:Humans; D016015:Logistic Models; D008180:Lupus Erythematosus, Systemic / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22 / Q000235:genetics* / Q000378:metabolism
chemical_list: C516765:PTPN22 protein, human; D054596:Protein Tyrosine Phosphatase, Non-Receptor Type 22