PTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndrome
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Publication Date: | 2010 |
Other Authors: | , , , , , , |
Format: | Article |
Language: | eng |
Source: | Repositório Institucional da UNIFESP |
Download full: | https://repositorio.unifesp.br/handle/11600/32843 https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x |
Summary: | 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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Bianco, 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]Universidade Federal de São Paulo (UNIFESP)Universidade Federal do ABC (UFABC)Univ Cuiaba2016-01-24T14:05:21Z2016-01-24T14:05:21Z2010-09-01Scandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010.0300-9475https://repositorio.unifesp.br/handle/11600/32843https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x10.1111/j.1365-3083.2010.02438.xWOS:000280638800013Individuals 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.Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)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, BrazilFAPESP: 2009/05250-0Web of Science256-259engWiley-BlackwellScandinavian Journal of Immunologyhttp://olabout.wiley.com/WileyCDA/Section/id-406071.htmlinfo:eu-repo/semantics/openAccessPTPN22 Polymorphism is Related to Autoimmune Disease Risk in Patients with Turner Syndromeinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articlereponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP11600/328432023-07-31 18:02:23.471metadata only accessoai:repositorio.unifesp.br:11600/32843Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestopendoar:34652023-07-31T21:02:23Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.en.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.institution.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.issued.fl_str_mv |
2010-09-01 |
dc.date.accessioned.fl_str_mv |
2016-01-24T14:05:21Z |
dc.date.available.fl_str_mv |
2016-01-24T14:05:21Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.citation.fl_str_mv |
Scandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010. |
dc.identifier.uri.fl_str_mv |
https://repositorio.unifesp.br/handle/11600/32843 https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x |
dc.identifier.issn.none.fl_str_mv |
0300-9475 |
dc.identifier.doi.none.fl_str_mv |
10.1111/j.1365-3083.2010.02438.x |
dc.identifier.wos.none.fl_str_mv |
WOS:000280638800013 |
identifier_str_mv |
Scandinavian Journal of Immunology. Malden: Wiley-Blackwell, v. 72, n. 3, p. 256-259, 2010. 0300-9475 10.1111/j.1365-3083.2010.02438.x WOS:000280638800013 |
url |
https://repositorio.unifesp.br/handle/11600/32843 https://dx.doi.org/10.1111/j.1365-3083.2010.02438.x |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.ispartof.none.fl_str_mv |
Scandinavian Journal of Immunology |
dc.rights.driver.fl_str_mv |
http://olabout.wiley.com/WileyCDA/Section/id-406071.html info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
http://olabout.wiley.com/WileyCDA/Section/id-406071.html |
eu_rights_str_mv |
openAccess |
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 |
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Repositório Institucional da UNIFESP |
repository.name.fl_str_mv |
Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP) |
repository.mail.fl_str_mv |
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