Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development

Autores
Sundblad, Victoria; Chiauzzi, Violeta Alicia; Andreone, Luz; Campo, Stella Maris; Charreau, Eduardo Hernan; Dain, Liliana Beatriz
Año de publicación
2010
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Although the impact of polymorphisms 919A>G and 2039A>G of FSHR gene in normal ovarian function is almost clear, in Premature Ovarian Failure (POF) it still remains elusive. To analyse the putative association of these polymorphisms with POF development, 97 POF patients and 72 women over 40 years of age with normal menstrual record were genotyped for 919A>G and 2039A>G variants. No association was found between genotype GG of each polymorphism and the risk of POF. Nevertheless, ten POF patients and only one control presented the less common combinations 919G-2039A and 919A-2039G (p<0.05). In addition, the frequency of primary amenorrhoea and the occurrence of familial POF were significantly increased among patients with 919GG-2039GG genotype. In 45 normally menstruating women, no significant differences were found among different FSHR genotypes in FSH, E2, Inhibin A and Inhibin B levels. In conclusion, FSHR polymorphism genotypes were not associated either to the risk of POF or to serum hormone levels of control women. However, 919GG-2039GG genotype might be associated to relatively more severe symptoms of POF. On the other hand, the differences found between controls and patients in the prevalence of the cross haplotypes, may suggest that these rare allelic variants might possibly influence POF development.
Fil: Sundblad, Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Andreone, Luz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; Argentina
Fil: Campo, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; Argentina
Fil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; Argentina
Materia
Fsh Receptor
Premature Ovarian Failure
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/14292
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/14292
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) developmentSundblad, VictoriaChiauzzi, Violeta AliciaAndreone, LuzCampo, Stella MarisCharreau, Eduardo HernanDain, Liliana BeatrizFsh ReceptorPremature Ovarian Failurehttps://purl.org/becyt/ford/3.1https://purl.org/becyt/ford/3https://purl.org/becyt/ford/3.2https://purl.org/becyt/ford/3Although the impact of polymorphisms 919A>G and 2039A>G of FSHR gene in normal ovarian function is almost clear, in Premature Ovarian Failure (POF) it still remains elusive. To analyse the putative association of these polymorphisms with POF development, 97 POF patients and 72 women over 40 years of age with normal menstrual record were genotyped for 919A>G and 2039A>G variants. No association was found between genotype GG of each polymorphism and the risk of POF. Nevertheless, ten POF patients and only one control presented the less common combinations 919G-2039A and 919A-2039G (p<0.05). In addition, the frequency of primary amenorrhoea and the occurrence of familial POF were significantly increased among patients with 919GG-2039GG genotype. In 45 normally menstruating women, no significant differences were found among different FSHR genotypes in FSH, E2, Inhibin A and Inhibin B levels. In conclusion, FSHR polymorphism genotypes were not associated either to the risk of POF or to serum hormone levels of control women. However, 919GG-2039GG genotype might be associated to relatively more severe symptoms of POF. On the other hand, the differences found between controls and patients in the prevalence of the cross haplotypes, may suggest that these rare allelic variants might possibly influence POF development.Fil: Sundblad, Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; ArgentinaFil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; ArgentinaFil: Andreone, Luz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; ArgentinaFil: Campo, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; ArgentinaFil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; ArgentinaFil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; ArgentinaResearch Trends2010-10info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/14292Sundblad, Victoria; Chiauzzi, Violeta Alicia; Andreone, Luz; Campo, Stella Maris; Charreau, Eduardo Hernan; et al.; Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development; Research Trends; Current Trends in Endocrinology; 4; 4; 10-2010; 21-270972-947Xenginfo:eu-repo/semantics/altIdentifier/url/http://www.researchtrends.net/tia/abstract.asp?in=0&vn=4&tid=59&aid=2998&pub=2010&type=3info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-sa/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-29T10:31:37Zoai:ri.conicet.gov.ar:11336/14292instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-29 10:31:37.799CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
title Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
spellingShingle Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
Sundblad, Victoria
Fsh Receptor
Premature Ovarian Failure
title_short Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
title_full Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
title_fullStr Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
title_full_unstemmed Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
title_sort Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development
dc.creator.none.fl_str_mv Sundblad, Victoria
Chiauzzi, Violeta Alicia
Andreone, Luz
Campo, Stella Maris
Charreau, Eduardo Hernan
Dain, Liliana Beatriz
author Sundblad, Victoria
author_facet Sundblad, Victoria
Chiauzzi, Violeta Alicia
Andreone, Luz
Campo, Stella Maris
Charreau, Eduardo Hernan
Dain, Liliana Beatriz
author_role author
author2 Chiauzzi, Violeta Alicia
Andreone, Luz
Campo, Stella Maris
Charreau, Eduardo Hernan
Dain, Liliana Beatriz
author2_role author
author
author
author
author
dc.subject.none.fl_str_mv Fsh Receptor
Premature Ovarian Failure
topic Fsh Receptor
Premature Ovarian Failure
purl_subject.fl_str_mv https://purl.org/becyt/ford/3.1
https://purl.org/becyt/ford/3
https://purl.org/becyt/ford/3.2
https://purl.org/becyt/ford/3
dc.description.none.fl_txt_mv Although the impact of polymorphisms 919A>G and 2039A>G of FSHR gene in normal ovarian function is almost clear, in Premature Ovarian Failure (POF) it still remains elusive. To analyse the putative association of these polymorphisms with POF development, 97 POF patients and 72 women over 40 years of age with normal menstrual record were genotyped for 919A>G and 2039A>G variants. No association was found between genotype GG of each polymorphism and the risk of POF. Nevertheless, ten POF patients and only one control presented the less common combinations 919G-2039A and 919A-2039G (p<0.05). In addition, the frequency of primary amenorrhoea and the occurrence of familial POF were significantly increased among patients with 919GG-2039GG genotype. In 45 normally menstruating women, no significant differences were found among different FSHR genotypes in FSH, E2, Inhibin A and Inhibin B levels. In conclusion, FSHR polymorphism genotypes were not associated either to the risk of POF or to serum hormone levels of control women. However, 919GG-2039GG genotype might be associated to relatively more severe symptoms of POF. On the other hand, the differences found between controls and patients in the prevalence of the cross haplotypes, may suggest that these rare allelic variants might possibly influence POF development.
Fil: Sundblad, Victoria. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Chiauzzi, Violeta Alicia. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Andreone, Luz. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; Argentina
Fil: Campo, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas; Argentina; Argentina. Gobierno de la Ciudad de Buenos Aires. Hospital General de Niños "Ricardo Gutierrez"; Argentina. Dirección Nacional de Instituto de Investigación. Administración Nacional de Laboratorio e Instituto de Salud; Argentina
Fil: Charreau, Eduardo Hernan. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina
Fil: Dain, Liliana Beatriz. Consejo Nacional de Investigaciones Científicas y Técnicas. Instituto de Biología y Medicina Experimental (i); Argentina; Argentina. Direccion Nacional de Instituto de Investigacion. Administración Nacional de Laboratorios e Institutos de Salud "Dr. Carlos G. Malbran". Centro Nacional de Genetica Medica; Argentina
description Although the impact of polymorphisms 919A>G and 2039A>G of FSHR gene in normal ovarian function is almost clear, in Premature Ovarian Failure (POF) it still remains elusive. To analyse the putative association of these polymorphisms with POF development, 97 POF patients and 72 women over 40 years of age with normal menstrual record were genotyped for 919A>G and 2039A>G variants. No association was found between genotype GG of each polymorphism and the risk of POF. Nevertheless, ten POF patients and only one control presented the less common combinations 919G-2039A and 919A-2039G (p<0.05). In addition, the frequency of primary amenorrhoea and the occurrence of familial POF were significantly increased among patients with 919GG-2039GG genotype. In 45 normally menstruating women, no significant differences were found among different FSHR genotypes in FSH, E2, Inhibin A and Inhibin B levels. In conclusion, FSHR polymorphism genotypes were not associated either to the risk of POF or to serum hormone levels of control women. However, 919GG-2039GG genotype might be associated to relatively more severe symptoms of POF. On the other hand, the differences found between controls and patients in the prevalence of the cross haplotypes, may suggest that these rare allelic variants might possibly influence POF development.
publishDate 2010
dc.date.none.fl_str_mv 2010-10
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/14292
Sundblad, Victoria; Chiauzzi, Violeta Alicia; Andreone, Luz; Campo, Stella Maris; Charreau, Eduardo Hernan; et al.; Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development; Research Trends; Current Trends in Endocrinology; 4; 4; 10-2010; 21-27
0972-947X
url http://hdl.handle.net/11336/14292
identifier_str_mv Sundblad, Victoria; Chiauzzi, Violeta Alicia; Andreone, Luz; Campo, Stella Maris; Charreau, Eduardo Hernan; et al.; Role of polymorphisms 919A>G and 2039A>G of FSH receptor (FSHR) gene in premature ovarian failure (POF) development; Research Trends; Current Trends in Endocrinology; 4; 4; 10-2010; 21-27
0972-947X
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/url/http://www.researchtrends.net/tia/abstract.asp?in=0&vn=4&tid=59&aid=2998&pub=2010&type=3
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-sa/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
application/pdf
dc.publisher.none.fl_str_mv Research Trends
publisher.none.fl_str_mv Research Trends
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
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score 13.070432

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