Associação do Polimorfismo 14pb ins/del do gene Hla-G com a endometriose em mulheres de Mato Grosso-Brasil
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 dyspare...
| Autor: | |
|---|---|
| Tipo de documento: | Tesis de maestría |
| Estado: | Published version |
| Fecha de publicación: | 2015 |
| País: | Brasil |
| Institución: | UFMT |
| Repositorio: | Repositório Institucional da UFMT |
| Lenguaje: | Portugués |
| OAI Identifier: | oai:localhost:1/692 |
| Acceso en línea: | http://ri.ufmt.br/handle/1/692 |
| Nivel de acceso: | Acceso abierto |
| Palabra clave: | Endometriose HLA-G 14pb CNPQ::CIENCIAS DA SAUDE Endometriosis |
| _version_ | 1878751868245508096 |
|---|---|
| author | Seidel, Joziane Agnoria da Silva |
| author_browse | Seidel, Joziane Agnoria da Silva |
| author_facet | Seidel, Joziane Agnoria da Silva |
| author_role | author |
| collection | Repositório Institucional da UFMT |
| 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. |
| eu_rights_str_mv | openAccess |
| format | masterThesis |
| id | BR_20a8e2e82dfd7fa2367ddc2d5d21feac |
| institution | UFMT |
| instname_str | Universidade Federal de Mato Grosso (UFMT) |
| language | por |
| network_acronym_str | BR |
| network_name_str | Brasil |
| oai_identifier_str | oai:localhost:1/692 |
| publishDate | 2015 |
| publishDateSort | 2015 |
| publisher | Universidade Federal de Mato Grosso Brasil Faculdade de Medicina (FM) UFMT CUC - Cuiabá Programa de Pós-Graduação em Ciências da Saúde |
| publisherStr | Brasil Faculdade de Medicina (FM) Programa de Pós-Graduação em Ciências da Saúde UFMT CUC - Cuiabá Universidade Federal de Mato Grosso |
| reponame_str | Repositório Institucional da UFMT |
| spelling | 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 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. CNPq A 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 Grosso Brasil Faculdade de Medicina (FM) UFMT CUC - Cuiabá Programa de Pós-Graduação em Ciências da Saúde 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 |
| 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 |
| status_str | publishedVersion |
| title | 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_short | 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 |
| topic | Endometriose HLA-G 14pb CNPQ::CIENCIAS DA SAUDE Endometriosis |
| topic_facet | Endometriose HLA-G 14pb CNPQ::CIENCIAS DA SAUDE Endometriosis |
| url | http://ri.ufmt.br/handle/1/692 |