TP53 gene polymorphisms at codons 11, 72, and 248 and association with endometriosis in a Brazilian population

Detalhes bibliográficos
Autor(a) principal: Camargo-Kosugi, Cintia Meirelles de [UNIFESP]
Data de Publicação: 2014
Outros Autores: 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]
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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spelling 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
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