PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome

Autor(es)

Bianco, B. ^{[1, 2]} ; Verreschi, I. T. N. ^[1] ; Oliveira, K. C. ^[1] ; Guedes, A. D. ^[1] ; Galera, B. B. ^[3] ; Galera, M. F. ^[3] ; Barbosa, C. P. ^[2] ; Lipay, M. V. N. ^[1]

Afiliação do(s) autor(es)

^[1] Univ Fed Sao Paulo, Div Endocrinol, Dept Med, Sao Paulo - Brazil

^[2] ABC, Fac Med, Div Gynecol Pathol & Human Reprod, Dept Gynecol & Obstet, Santo Andre, SP - Brazil

^[3] Univ Cuiaba, Div Med Genet & Mol Biol, Cuiaba, MT - Brazil

• Tipo de documento: Artigo Científico
• Fonte: Scandinavian Journal of Immunology; v. 72, n. 3, p. 256-259, SEP 2010.
• Citações Web of Science: 9

Resumo

Individuals with Turner syndrome (TS) clearly have an increased risk for autoimmune diseases. Recently, an allelic variation (C1858T) of the PTPN22 gene was revealed to be associated with the development of autoimmunity. Thus, the aim of this study was to determine the frequency of the PTPN22 C1858T polymorphism in women with Turner syndrome (TS) compared to controls. Case-control study comprises 142 women with TS (cases) and 180 healthy and fertile women without a history of autoimmune disease (controls). Detection of the PTPN22 C1858T polymorphism (rs2476601) was performed by TaqMan real-time PCR. The chi-square test was used to compare allele and genotype frequencies between groups and to estimate the Hardy-Weinberg equilibrium. All P-values were two-tailed, and 95% confidence intervals (CIs) were calculated. A P-value < 0.05 was considered statistically significant. Genotypes CC, CT and TT of the PTPN22 C1858T polymorphism presented frequencies of, respectively, 67.6%, 28.2% and 4.2% in the TS, and 82.8%, 16.1% and 1.1% in the control group (P = 0.0043). Alleles C and T were present in, respectively, 81.7% and 18.3% of the patients with TS (P = 0.001, OR = 2.22, 95% CI = 1.39-3.54) and in 90.8% and 9.2%, respectively, of the controls. The data suggest that in Brazilian patients with TS, the PTPN22 C1858T polymorphism may be an important genetic factor predisposing to autoimmune disease risk. (AU)

• Processo FAPESP: 09/05250-0 - Estudo de polimorfismos relacionados à autoimunidade em mulheres portadoras de síndrome Turner
• Beneficiário: Monica Vannucci Nunes Lipay
• Modalidade de apoio: Auxílio à Pesquisa - Regular