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

Detalhes bibliográficos
Autor(a) principal: Bianco, Bianca Alves Vieira [UNIFESP]
Data de Publicação: 2010
Outros Autores: Verreschi, Ieda Therezinha do Nascimento [UNIFESP], Oliveira, Kelly Cristina de [UNIFESP], Guedes, Alexis Dourado [UNIFESP], Galera, Bianca Borsatto, Galera, Marcial Francis [UNIFESP], Barbosa, Caio Parente, Lipay, Monica Vannucci Nunes [UNIFESP]
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Repositório Institucional da UNIFESP
Texto Completo: https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x
https://repositorio.unifesp.br/handle/11600/32843
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.
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spelling PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner SyndromeIndividuals 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.Universidade Federal de São Paulo, Div Endocrinol, Dept Med, São Paulo, BrazilABC, Fac Med, Div Gynecol Pathol & Human Reprod, Dept Gynecol & Obstet, Santo Andre, SP, BrazilUniv Cuiaba, Div Med Genet & Mol Biol, Cuiaba, MT, BrazilUniversidade Federal de São Paulo, Div Endocrinol, Dept Med, São Paulo, BrazilWeb of ScienceFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP: 2009/05250-0Wiley-BlackwellUniversidade Federal de São Paulo (UNIFESP)Universidade Federal do ABC (UFABC)Univ CuiabaBianco, Bianca Alves Vieira [UNIFESP]Verreschi, Ieda Therezinha do Nascimento [UNIFESP]Oliveira, Kelly Cristina de [UNIFESP]Guedes, Alexis Dourado [UNIFESP]Galera, Bianca BorsattoGalera, Marcial Francis [UNIFESP]Barbosa, Caio ParenteLipay, Monica Vannucci Nunes [UNIFESP]2016-01-24T14:05:21Z2016-01-24T14:05:21Z2010-09-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion256-259https://dx.doi.org/10.1111/j.1365-3083.2010.02438.xScandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010.10.1111/j.1365-3083.2010.02438.x0300-9475https://repositorio.unifesp.br/handle/11600/32843WOS:000280638800013engScandinavian Journal of Immunologyinfo:eu-repo/semantics/openAccesshttp://olabout.wiley.com/WileyCDA/Section/id-406071.htmlreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2023-07-31T18:02:23Zoai:repositorio.unifesp.br/:11600/32843Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652023-07-31T18:02:23Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false
dc.title.none.fl_str_mv PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
title PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
spellingShingle PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
Bianco, Bianca Alves Vieira [UNIFESP]
title_short PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
title_full PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
title_fullStr PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
title_full_unstemmed PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
title_sort PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
author Bianco, Bianca Alves Vieira [UNIFESP]
author_facet Bianco, Bianca Alves Vieira [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Oliveira, Kelly Cristina de [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Galera, Bianca Borsatto
Galera, Marcial Francis [UNIFESP]
Barbosa, Caio Parente
Lipay, Monica Vannucci Nunes [UNIFESP]
author_role author
author2 Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Oliveira, Kelly Cristina de [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Galera, Bianca Borsatto
Galera, Marcial Francis [UNIFESP]
Barbosa, Caio Parente
Lipay, Monica Vannucci Nunes [UNIFESP]
author2_role author
author
author
author
author
author
author
dc.contributor.none.fl_str_mv Universidade Federal de São Paulo (UNIFESP)
Universidade Federal do ABC (UFABC)
Univ Cuiaba
dc.contributor.author.fl_str_mv Bianco, Bianca Alves Vieira [UNIFESP]
Verreschi, Ieda Therezinha do Nascimento [UNIFESP]
Oliveira, Kelly Cristina de [UNIFESP]
Guedes, Alexis Dourado [UNIFESP]
Galera, Bianca Borsatto
Galera, Marcial Francis [UNIFESP]
Barbosa, Caio Parente
Lipay, Monica Vannucci Nunes [UNIFESP]
description 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.
publishDate 2010
dc.date.none.fl_str_mv 2010-09-01
2016-01-24T14:05:21Z
2016-01-24T14:05:21Z
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x
Scandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010.
10.1111/j.1365-3083.2010.02438.x
0300-9475
https://repositorio.unifesp.br/handle/11600/32843
WOS:000280638800013
url https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x
https://repositorio.unifesp.br/handle/11600/32843
identifier_str_mv Scandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010.
10.1111/j.1365-3083.2010.02438.x
0300-9475
WOS:000280638800013
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv Scandinavian Journal of Immunology
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
http://olabout.wiley.com/WileyCDA/Section/id-406071.html
eu_rights_str_mv openAccess
rights_invalid_str_mv http://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.format.none.fl_str_mv 256-259
dc.publisher.none.fl_str_mv Wiley-Blackwell
publisher.none.fl_str_mv Wiley-Blackwell
dc.source.none.fl_str_mv reponame:Repositório Institucional da UNIFESP
instname:Universidade Federal de São Paulo (UNIFESP)
instacron:UNIFESP
instname_str Universidade Federal de São Paulo (UNIFESP)
instacron_str UNIFESP
institution UNIFESP
reponame_str Repositório Institucional da UNIFESP
collection Repositório Institucional da UNIFESP
repository.name.fl_str_mv Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)
repository.mail.fl_str_mv biblioteca.csp@unifesp.br
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