TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population
Autor(a) principal: | |
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Data de Publicação: | 2014 |
Outros Autores: | , , , , , |
Tipo de documento: | Artigo |
Idioma: | eng |
Título da fonte: | Repositório Institucional da UNIFESP |
Texto Completo: | http://dx.doi.org/10.4238/2014.August.26.1 http://repositorio.unifesp.br/handle/11600/37190 |
Resumo: | We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53*11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. the genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53*72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). the genotypic distribution in the endometriosis group was 16.15% homozygous wildtype (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53*248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53*72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis. |
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TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian populationCell cycleEndometriosisGene polymorphismp53TP53We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53*11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. the genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53*72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). the genotypic distribution in the endometriosis group was 16.15% homozygous wildtype (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53*248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53*72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis.Universidade Federal de São Paulo, Escola Paulista Med, Dept Ginecol, Lab Ginecol Mol & Prote, São Paulo, BrazilUniversidade Federal de São Paulo, Escola Paulista Med, Dept Ginecol, Lab Ginecol Mol & Prote, São Paulo, BrazilWeb of ScienceFundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)FAPESP: 09/53000-2Funpec-editoraUniversidade Federal de São Paulo (UNIFESP)Camargo-Kosugi, Cintia Meirelles de [UNIFESP]D'Amora, Paulo [UNIFESP]Kleine, Joao Paulo Ferreira de Oliveira [UNIFESP]Carvalho, Cristina Valletta de [UNIFESP]Sato, Hélio [UNIFESP]Schor, Eduardo [UNIFESP]Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP]2016-01-24T14:35:00Z2016-01-24T14:35:00Z2014-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersion6503-6511http://dx.doi.org/10.4238/2014.August.26.1Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 13, n. 3, p. 6503-6511, 2014.10.4238/2014.August.26.11676-5680http://repositorio.unifesp.br/handle/11600/37190WOS:000343049600015engGenetics and Molecular Researchinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UNIFESPinstname:Universidade Federal de São Paulo (UNIFESP)instacron:UNIFESP2023-05-18T13:49:27Zoai:repositorio.unifesp.br/:11600/37190Repositório InstitucionalPUBhttp://www.repositorio.unifesp.br/oai/requestbiblioteca.csp@unifesp.bropendoar:34652023-05-18T13:49:27Repositório Institucional da UNIFESP - Universidade Federal de São Paulo (UNIFESP)false |
dc.title.none.fl_str_mv |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
title |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
spellingShingle |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population Camargo-Kosugi, Cintia Meirelles de [UNIFESP] Cell cycle Endometriosis Gene polymorphism p53 TP53 |
title_short |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
title_full |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
title_fullStr |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
title_full_unstemmed |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
title_sort |
TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population |
author |
Camargo-Kosugi, Cintia Meirelles de [UNIFESP] |
author_facet |
Camargo-Kosugi, Cintia Meirelles de [UNIFESP] D'Amora, Paulo [UNIFESP] Kleine, Joao Paulo Ferreira de Oliveira [UNIFESP] Carvalho, Cristina Valletta de [UNIFESP] Sato, Hélio [UNIFESP] Schor, Eduardo [UNIFESP] Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP] |
author_role |
author |
author2 |
D'Amora, Paulo [UNIFESP] Kleine, Joao Paulo Ferreira de Oliveira [UNIFESP] Carvalho, Cristina Valletta de [UNIFESP] Sato, Hélio [UNIFESP] Schor, Eduardo [UNIFESP] Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP] |
author2_role |
author author author author author author |
dc.contributor.none.fl_str_mv |
Universidade Federal de São Paulo (UNIFESP) |
dc.contributor.author.fl_str_mv |
Camargo-Kosugi, Cintia Meirelles de [UNIFESP] D'Amora, Paulo [UNIFESP] Kleine, Joao Paulo Ferreira de Oliveira [UNIFESP] Carvalho, Cristina Valletta de [UNIFESP] Sato, Hélio [UNIFESP] Schor, Eduardo [UNIFESP] Silva, Ismael Dale Cotrim Guerreiro da [UNIFESP] |
dc.subject.por.fl_str_mv |
Cell cycle Endometriosis Gene polymorphism p53 TP53 |
topic |
Cell cycle Endometriosis Gene polymorphism p53 TP53 |
description |
We evaluated the association between TP53 gene polymorphisms and endometriosis in Brazilian women. Genomic DNA was extracted from swabs of buccal cells collected from hospital patients. TP53 gene polymorphisms were investigated at three codons: TP53*11 Glu/Gln or Lys (GAG->CAG or AAG), TP53*72 Arg/Pro (CCG->CCC), and TP53*248 Arg/Thr (CGG->TCG) using the polymerase chain reaction-restriction fragment length polymorphism method. TP53*11 presented the following genotypic distribution: the control group was 98.28% homozygous wild-type (Glu) and 1.72% homozygous variant (Gln/Lys), and the heterozygous genotype was not identified. the genotypic distribution in the endometriosis group was 96% homozygous wild-type (Glu) and 4% heterozygous (Glu-Gln/Lys); the homozygous variant genotype was not identified (P = 0.02). TP53*72 showed the following genotypic distribution: the control group was 29.75% homozygous wild-type (Arg), 47.11% heterozygous (Arg-Pro), and 23.14% homozygous variant (Pro). the genotypic distribution in the endometriosis group was 16.15% homozygous wildtype (Arg), 51.54% heterozygous (Arg-Pro), and 32.31% homozygous variant (Pro) (odds ratio = 2.26; 95% confidence interval = 1.19-4.03; P = 0.02). Only one patient had the homozygous TP53*248 genotype (Arg-Trp/Gln); all other patients were homozygous wild-type in both the control and endometriosis groups (P = 0.51; NS). We found that TP53*72 polymorphism may be associated with susceptibility to endometriosis; the presence of at least 1 polymorphic allele increased the chance of disease development by 2.26-fold. Hence, this genetic variant is a potential candidate marker for endometriosis. |
publishDate |
2014 |
dc.date.none.fl_str_mv |
2014-01-01 2016-01-24T14:35:00Z 2016-01-24T14:35:00Z |
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 |
http://dx.doi.org/10.4238/2014.August.26.1 Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 13, n. 3, p. 6503-6511, 2014. 10.4238/2014.August.26.1 1676-5680 http://repositorio.unifesp.br/handle/11600/37190 WOS:000343049600015 |
url |
http://dx.doi.org/10.4238/2014.August.26.1 http://repositorio.unifesp.br/handle/11600/37190 |
identifier_str_mv |
Genetics and Molecular Research. Ribeirao Preto: Funpec-editora, v. 13, n. 3, p. 6503-6511, 2014. 10.4238/2014.August.26.1 1676-5680 WOS:000343049600015 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
Genetics and Molecular Research |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
6503-6511 |
dc.publisher.none.fl_str_mv |
Funpec-editora |
publisher.none.fl_str_mv |
Funpec-editora |
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 |
_version_ |
1814268342537551872 |