Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil

Detalhes bibliográficos
Autor(a) principal: Seidel, Joziane Agnoria da Silva
Data de Publicação: 2015
Tipo de documento: Dissertação
Idioma: por
Título da fonte: Repositório Institucional da UFMT
Texto Completo: http://ri.ufmt.br/handle/1/692
Resumo: Endometriosis is a nosological condition characterized by the presence of functional tissue similar to eutopic endometrium in pelvic peritoneum, ovaries, rectovaginal septum. Its prevalence in infertile women varies between 30 and 50%. The clinical manifestations are variable, including deep dyspareunia, disabling dysmenorrhea, chronic pelvic pain and infertility. The influence of genes involved in the immune system and its variants have been investigated for their susceptibility and progression of endometriosis. The gene of human leukocyte antigen-G (HLA-G) belongs to the main histocompatibility complex class I. It´s mapped on 6p21, has eight exons and seven introns being translated region where polymorphism is present 14pb insertion/deletion (ins/del). This study aims to identify possible association between the polymorphism 14pb ins/del in HLA-G gene and endometriosis in women of Mato Grosso-Brazil. The epidemiological design is observational case-control type. 349 women were included (209 cases and 140 controls) aged 16-50 years, seen and diagnosed by laparoscopy in a human reproduction center of Mato Grosso. Interviews and collection of peripheral blood samples were performed for each participant. DNA was extracted by salting out method, polymerase chain reaction using specific primers, was performed and the fragments were visualized on 10% polyacrylamide gel. The genotypic and allelic frequencies of polymorphism 14pb ins/del HLA-G gene between cases and controls were observed more heterozygous genotypes ins/del 111 (53.1%) and 69 (49.3%) and alleles del 249 (59, 6%), 151 (54.0%), respectively. As regards staging, the genotypic frequencies ins/del grade I were 28 (58.3%); grade II, 36 (46.2%); grade III, 21 (48.8%) and grade IV, 26 (65.0%). The allelic frequencies del grade I were 54 (56.3%); grade II, 98 (62.8%); grade III, 49 (57.0%) and grade IV, 48 (60.0%). There was no significant difference in any variable analyzed. As the evaluation of polymorphisms 14pb ins/del HLA-G gene in the clinical variables between cases with or without infertility, most often heterozygous genotypes obtained were ins/del in 88 (55.0%) patients with infertility and 23 (47.0%) patients without infertility. The allele del was observed in infertile woman with a frequency of 186 (58.1%) and in no infertile women showed frequency of 63 (51.7%). Analyzing women with endometriosis and who reported abortion or not, it was noted that heterozygous genotypes were more frequent. In women with abortion was the frequency of ins/del 13 (48.1%) and without abortion ins/del 98 (53.8%). The results were not statistically significant in all clinical variables p>0.5. Our study found that the polymorphism 14pb ins/del in HLA-G gene did not influence the susceptibility to endometriosis in women Mato Grosso - Brazil. The genotypic and allelic frequencies are not associated with the staging and/or severity of the disease, infertility and miscarriages.
id UFMT_20a8e2e82dfd7fa2367ddc2d5d21feac
oai_identifier_str oai:localhost:1/692
network_acronym_str UFMT
network_name_str Repositório Institucional da UFMT
repository_id_str
spelling Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-BrasilEndometrioseHLA-G14pbCNPQ::CIENCIAS DA SAUDEEndometriosisHLA-G14pbEndometriosis is a nosological condition characterized by the presence of functional tissue similar to eutopic endometrium in pelvic peritoneum, ovaries, rectovaginal septum. Its prevalence in infertile women varies between 30 and 50%. The clinical manifestations are variable, including deep dyspareunia, disabling dysmenorrhea, chronic pelvic pain and infertility. The influence of genes involved in the immune system and its variants have been investigated for their susceptibility and progression of endometriosis. The gene of human leukocyte antigen-G (HLA-G) belongs to the main histocompatibility complex class I. It´s mapped on 6p21, has eight exons and seven introns being translated region where polymorphism is present 14pb insertion/deletion (ins/del). This study aims to identify possible association between the polymorphism 14pb ins/del in HLA-G gene and endometriosis in women of Mato Grosso-Brazil. The epidemiological design is observational case-control type. 349 women were included (209 cases and 140 controls) aged 16-50 years, seen and diagnosed by laparoscopy in a human reproduction center of Mato Grosso. Interviews and collection of peripheral blood samples were performed for each participant. DNA was extracted by salting out method, polymerase chain reaction using specific primers, was performed and the fragments were visualized on 10% polyacrylamide gel. The genotypic and allelic frequencies of polymorphism 14pb ins/del HLA-G gene between cases and controls were observed more heterozygous genotypes ins/del 111 (53.1%) and 69 (49.3%) and alleles del 249 (59, 6%), 151 (54.0%), respectively. As regards staging, the genotypic frequencies ins/del grade I were 28 (58.3%); grade II, 36 (46.2%); grade III, 21 (48.8%) and grade IV, 26 (65.0%). The allelic frequencies del grade I were 54 (56.3%); grade II, 98 (62.8%); grade III, 49 (57.0%) and grade IV, 48 (60.0%). There was no significant difference in any variable analyzed. As the evaluation of polymorphisms 14pb ins/del HLA-G gene in the clinical variables between cases with or without infertility, most often heterozygous genotypes obtained were ins/del in 88 (55.0%) patients with infertility and 23 (47.0%) patients without infertility. The allele del was observed in infertile woman with a frequency of 186 (58.1%) and in no infertile women showed frequency of 63 (51.7%). Analyzing women with endometriosis and who reported abortion or not, it was noted that heterozygous genotypes were more frequent. In women with abortion was the frequency of ins/del 13 (48.1%) and without abortion ins/del 98 (53.8%). The results were not statistically significant in all clinical variables p>0.5. Our study found that the polymorphism 14pb ins/del in HLA-G gene did not influence the susceptibility to endometriosis in women Mato Grosso - Brazil. The genotypic and allelic frequencies are not associated with the staging and/or severity of the disease, infertility and miscarriages.CNPqA endometriose é uma condição nosológica caracterizada pela presença de tecido funcional semelhante ao endométrio eutópico em locais como peritônio pélvico, ovários, septo reto-vaginal. Sua prevalência varia entre 30 a 50% nas mulheres inférteis. O quadro clínico inclui dispareunia profunda, dismenorreia incapacitante, dor pélvica crônica e infertilidade. A influência de genes envolvidos com o sistema imunológico e suas variantes têm sido investigadas quanto à suscetibilidade e evolução da endometriose. O gene antígeno leucocitário humano-G (HLA-G) pertence ao complexo de histocompatibilidade principal classe I, mapeado e 6p21 e contem o polimorfismo 14pb inserção/deleção (ins/del). O presente estudo objetiva identificar possível associação entre o polimorfismo 14pb ins/del no gene HLA-G e endometriose em mulheres de Mato Grosso, Brasil. O desenho epidemiológico é observacional do tipo caso-controle. Foram incluídas 349 mulheres (209 casos e 140 controles) com idades entre 16 a 50 anos, atendidas e diagnosticadas através de videolaparoscopia em serviço de referência em reprodução humana de Mato Grosso. Entrevistas semipadronizadas e coleta de amostras de sangue periférico foram realizadas. Obtiveram-se DNA através do método com utilização de sais, foi realizada reação em cadeia de polimerase utilizando iniciadores específicos, os fragmentos foram visualizados em gel de poliacrilamida 10%. As frequências genotípicas e alélicas do polimorfismo 14pb ins/del do gene HLA-G entre casos e controles mais observadas foram os genótipos heterozigotos ins/del 111 (53,1%) e 69 (49,3%) e alelos del 249 (59,6%), 151 (54,0%), respectivamente. Em relação ao estadiamento, as frequências genotípicas ins/del no grau I foram 28 (58,3%); grau II, 36 (46,2%); grau III, 21 (48,8%) e grau IV, 26 (65,0%). As frequências alélicas del no grau I foram 54 (56,3%); grau II, 98 (62,8%); grau III, 49 (57,0%) e grau IV, 48 (60,0%). Não houve diferença estatisticamente significante em nenhuma variável analisada. Quanto a avaliação do polimorfismo 14pb ins/del do gene HLA-G nas variáveis clínicas entre casos com ou sem infertilidade, a maior frequência obtida foram os genótipos heterozigotos ins/del em 88 (55,0%) das pacientes com infertilidade e em 23 (47,0%) das pacientes sem infertilidade. O alelo del foi observado nas inférteis com frequência de 186 (58,1%) e nas mulheres sem infertilidade apresentou frequência de 63 (51,7%). Analisando as mulheres com xiv endometriose e que relataram ter tido abortamento ou não, observou-se que os genótipos heterozigotos foram mais frequentes. Nas mulheres com abortamento a frequência foi de ins/del 13 (48,1%) e sem abortamento ins/del 98 (53,8%). Os resultados não foram estatisticamente significantes em todas as variáveis clínicas analisadas p>0,05. Nosso estudo verificou que o polimorfismo 14pb ins/del no gene HLA-G não está associado à endometriose em mulheres de Mato Grosso – Brasil. As frequências genotípicas e alélicas não estão associadas com a doença ou com o estadiamento da mesma, as frequências genotípicas também não estão associadas com infertilidade e com abortamento.Universidade Federal de Mato GrossoBrasilFaculdade de Medicina (FM)UFMT CUC - CuiabáPrograma de Pós-Graduação em Ciências da SaúdeMartins, Domingos Tabajara de Oliveirahttp://lattes.cnpq.br/3794477872946546Martins, Domingos Tabajara de Oliveira109.726.923-04http://lattes.cnpq.br/3794477872946546Jesus, Neyres Zínia Taveira de469.179.851-04http://lattes.cnpq.br/2760653304094924109.726.923-04Souza, João Vicente Braga de635.939.552-53http://lattes.cnpq.br/7804981785557071Seidel, Joziane Agnoria da Silva2018-04-27T17:34:00Z2016-05-062018-04-27T17:34:00Z2015-08-27info:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/masterThesisSEIDEL, Joziane Agnoria da Silva. Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil. 2015. xiv, 48 f. Dissertação (Mestrado em Ciências da Saúde) - Universidade Federal de Mato Grosso, Faculdade de Medicina, Cuiabá, 2015.http://ri.ufmt.br/handle/1/692porinfo:eu-repo/semantics/openAccessreponame:Repositório Institucional da UFMTinstname:Universidade Federal de Mato Grosso (UFMT)instacron:UFMT2018-04-28T07:01:04Zoai:localhost:1/692Repositório InstitucionalPUBhttp://ri.ufmt.br/oai/requestjordanbiblio@gmail.comopendoar:2018-04-28T07:01:04Repositório Institucional da UFMT - Universidade Federal de Mato Grosso (UFMT)false
dc.title.none.fl_str_mv Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
title Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
spellingShingle Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
Seidel, Joziane Agnoria da Silva
Endometriose
HLA-G
14pb
CNPQ::CIENCIAS DA SAUDE
Endometriosis
HLA-G
14pb
title_short Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
title_full Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
title_fullStr Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
title_full_unstemmed Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
title_sort Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
author Seidel, Joziane Agnoria da Silva
author_facet Seidel, Joziane Agnoria da Silva
author_role author
dc.contributor.none.fl_str_mv Martins, Domingos Tabajara de Oliveira
http://lattes.cnpq.br/3794477872946546
Martins, Domingos Tabajara de Oliveira
109.726.923-04
http://lattes.cnpq.br/3794477872946546
Jesus, Neyres Zínia Taveira de
469.179.851-04
http://lattes.cnpq.br/2760653304094924
109.726.923-04
Souza, João Vicente Braga de
635.939.552-53
http://lattes.cnpq.br/7804981785557071
dc.contributor.author.fl_str_mv Seidel, Joziane Agnoria da Silva
dc.subject.por.fl_str_mv Endometriose
HLA-G
14pb
CNPQ::CIENCIAS DA SAUDE
Endometriosis
HLA-G
14pb
topic Endometriose
HLA-G
14pb
CNPQ::CIENCIAS DA SAUDE
Endometriosis
HLA-G
14pb
description Endometriosis is a nosological condition characterized by the presence of functional tissue similar to eutopic endometrium in pelvic peritoneum, ovaries, rectovaginal septum. Its prevalence in infertile women varies between 30 and 50%. The clinical manifestations are variable, including deep dyspareunia, disabling dysmenorrhea, chronic pelvic pain and infertility. The influence of genes involved in the immune system and its variants have been investigated for their susceptibility and progression of endometriosis. The gene of human leukocyte antigen-G (HLA-G) belongs to the main histocompatibility complex class I. It´s mapped on 6p21, has eight exons and seven introns being translated region where polymorphism is present 14pb insertion/deletion (ins/del). This study aims to identify possible association between the polymorphism 14pb ins/del in HLA-G gene and endometriosis in women of Mato Grosso-Brazil. The epidemiological design is observational case-control type. 349 women were included (209 cases and 140 controls) aged 16-50 years, seen and diagnosed by laparoscopy in a human reproduction center of Mato Grosso. Interviews and collection of peripheral blood samples were performed for each participant. DNA was extracted by salting out method, polymerase chain reaction using specific primers, was performed and the fragments were visualized on 10% polyacrylamide gel. The genotypic and allelic frequencies of polymorphism 14pb ins/del HLA-G gene between cases and controls were observed more heterozygous genotypes ins/del 111 (53.1%) and 69 (49.3%) and alleles del 249 (59, 6%), 151 (54.0%), respectively. As regards staging, the genotypic frequencies ins/del grade I were 28 (58.3%); grade II, 36 (46.2%); grade III, 21 (48.8%) and grade IV, 26 (65.0%). The allelic frequencies del grade I were 54 (56.3%); grade II, 98 (62.8%); grade III, 49 (57.0%) and grade IV, 48 (60.0%). There was no significant difference in any variable analyzed. As the evaluation of polymorphisms 14pb ins/del HLA-G gene in the clinical variables between cases with or without infertility, most often heterozygous genotypes obtained were ins/del in 88 (55.0%) patients with infertility and 23 (47.0%) patients without infertility. The allele del was observed in infertile woman with a frequency of 186 (58.1%) and in no infertile women showed frequency of 63 (51.7%). Analyzing women with endometriosis and who reported abortion or not, it was noted that heterozygous genotypes were more frequent. In women with abortion was the frequency of ins/del 13 (48.1%) and without abortion ins/del 98 (53.8%). The results were not statistically significant in all clinical variables p>0.5. Our study found that the polymorphism 14pb ins/del in HLA-G gene did not influence the susceptibility to endometriosis in women Mato Grosso - Brazil. The genotypic and allelic frequencies are not associated with the staging and/or severity of the disease, infertility and miscarriages.
publishDate 2015
dc.date.none.fl_str_mv 2015-08-27
2016-05-06
2018-04-27T17:34:00Z
2018-04-27T17:34:00Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/masterThesis
format masterThesis
status_str publishedVersion
dc.identifier.uri.fl_str_mv SEIDEL, Joziane Agnoria da Silva. Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil. 2015. xiv, 48 f. Dissertação (Mestrado em Ciências da Saúde) - Universidade Federal de Mato Grosso, Faculdade de Medicina, Cuiabá, 2015.
http://ri.ufmt.br/handle/1/692
identifier_str_mv SEIDEL, Joziane Agnoria da Silva. Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil. 2015. xiv, 48 f. Dissertação (Mestrado em Ciências da Saúde) - Universidade Federal de Mato Grosso, Faculdade de Medicina, Cuiabá, 2015.
url http://ri.ufmt.br/handle/1/692
dc.language.iso.fl_str_mv por
language por
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.publisher.none.fl_str_mv Universidade Federal de Mato Grosso
Brasil
Faculdade de Medicina (FM)
UFMT CUC - Cuiabá
Programa de Pós-Graduação em Ciências da Saúde
publisher.none.fl_str_mv Universidade Federal de Mato Grosso
Brasil
Faculdade de Medicina (FM)
UFMT CUC - Cuiabá
Programa de Pós-Graduação em Ciências da Saúde
dc.source.none.fl_str_mv reponame:Repositório Institucional da UFMT
instname:Universidade Federal de Mato Grosso (UFMT)
instacron:UFMT
instname_str Universidade Federal de Mato Grosso (UFMT)
instacron_str UFMT
institution UFMT
reponame_str Repositório Institucional da UFMT
collection Repositório Institucional da UFMT
repository.name.fl_str_mv Repositório Institucional da UFMT - Universidade Federal de Mato Grosso (UFMT)
repository.mail.fl_str_mv jordanbiblio@gmail.com
_version_ 1804648491569381376