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

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dc.contributor.authorBianco, Bianca Alves Vieira [UNIFESP]
dc.contributor.authorVerreschi, Ieda Therezinha do Nascimento [UNIFESP]
dc.contributor.authorOliveira, Kelly Cristina de [UNIFESP]
dc.contributor.authorGuedes, Alexis Dourado [UNIFESP]
dc.contributor.authorGalera, Bianca Borsatto
dc.contributor.authorGalera, Marcial Francis [UNIFESP]
dc.contributor.authorBarbosa, Caio Parente
dc.contributor.authorLipay, Monica Vannucci Nunes [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionUniversidade Federal do ABC (UFABC)
dc.contributor.institutionUniv Cuiaba
dc.date.accessioned2016-01-24T14:05:21Z
dc.date.available2016-01-24T14:05:21Z
dc.date.issued2010-09-01
dc.description.abstractIndividuals 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.en
dc.description.affiliationUniversidade Federal de São Paulo, Div Endocrinol, Dept Med, São Paulo, Brazil
dc.description.affiliationABC, Fac Med, Div Gynecol Pathol & Human Reprod, Dept Gynecol & Obstet, Santo Andre, SP, Brazil
dc.description.affiliationUniv Cuiaba, Div Med Genet & Mol Biol, Cuiaba, MT, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Div Endocrinol, Dept Med, São Paulo, Brazil
dc.description.sourceWeb of Science
dc.description.sponsorshipFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)pt
dc.description.sponsorshipIDFAPESP: 2009/05250-0pt
dc.format.extent256-259
dc.identifierhttps://dx.doi.org/10.1111/j.1365-3083.2010.02438.x
dc.identifier.citationScandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010.
dc.identifier.doi10.1111/j.1365-3083.2010.02438.x
dc.identifier.issn0300-9475
dc.identifier.urihttps://repositorio.unifesp.br/handle/11600/32843
dc.identifier.wosWOS:000280638800013
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofScandinavian Journal of Immunology
dc.rightsinfo:eu-repo/semantics/openAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.titlePTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndromeen
dc.typeinfo:eu-repo/semantics/article
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