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
- Institución
- Consejo Nacional de Investigaciones Científicas y Técnicas
- OAI Identificador
- oai:ri.conicet.gov.ar:11336/14292
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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 Técnicas2025-09-03T10:06:52Zoai: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:34982025-09-03 10:06:52.569CONICET 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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1842269978226589696 |
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13.13397 |