Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas

Autores:: Alarcón Granados, Maria Camila
Moreno-Ortíz, Harold
Ferrebuz Cardozo, Atilio
Camargo Villalba, Gloria
Forero Castro, Maribel

Tipo de recurso:: Article of journal

Fecha de publicación:: 2025

Institución:: Universidad Pedagógica y Tecnológica de Colombia

Repositorio:: RiUPTC: Repositorio Institucional UPTC

Idioma:

id	REPOUPTC2_45dacc34a3f0de2fde95dd9edc06b870
oai_identifier_str	oai:repositorio.uptc.edu.co:001/18822
network_acronym_str	REPOUPTC2
network_name_str	RiUPTC: Repositorio Institucional UPTC
repository_id_str
dc.title.es-ES.fl_str_mv	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
title	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
spellingShingle	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas Polimorfismo de nucleótido único; Hormona folículo-estimulante; Síndrome de ovario poliquístico; Mujeres colombianas. Single Nucleotide Polymorphism; Follicle-Stimulating Hormone Receptor; Polycystic Ovary Syndrome; Colombian women.
title_short	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
title_full	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
title_fullStr	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
title_full_unstemmed	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
title_sort	Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas
dc.creator.fl_str_mv	Alarcón Granados, Maria Camila Moreno-Ortíz, Harold Ferrebuz Cardozo, Atilio Camargo Villalba, Gloria Forero Castro, Maribel
dc.contributor.author.spa.fl_str_mv	Alarcón Granados, Maria Camila Moreno-Ortíz, Harold Ferrebuz Cardozo, Atilio Camargo Villalba, Gloria Forero Castro, Maribel
dc.subject.none.fl_str_mv	Polimorfismo de nucleótido único; Hormona folículo-estimulante; Síndrome de ovario poliquístico; Mujeres colombianas. Single Nucleotide Polymorphism; Follicle-Stimulating Hormone Receptor; Polycystic Ovary Syndrome; Colombian women.
topic	Polimorfismo de nucleótido único; Hormona folículo-estimulante; Síndrome de ovario poliquístico; Mujeres colombianas. Single Nucleotide Polymorphism; Follicle-Stimulating Hormone Receptor; Polycystic Ovary Syndrome; Colombian women.
publishDate	2025
dc.date.accessioned.none.fl_str_mv	2025-07-11 14:41:34 2026-04-16T17:13:11Z
dc.date.available.none.fl_str_mv	2025-07-11 14:41:34
dc.date.issued.none.fl_str_mv	2025-07-11
dc.type.spa.fl_str_mv	Artículo de revista
dc.type.coar.fl_str_mv	http://purl.org/coar/resource_type/c_2df8fbb1
dc.type.coar.none.fl_str_mv	http://purl.org/coar/resource_type/c_6501
dc.type.driver.none.fl_str_mv	info:eu-repo/semantics/article
dc.type.local.eng.fl_str_mv	Journal article
dc.type.version.none.fl_str_mv	info:eu-repo/semantics/publishedVersion
dc.type.content.none.fl_str_mv	Text
dc.type.coarversion.none.fl_str_mv	http://purl.org/coar/version/c_970fb48d4fbd8a85
format	http://purl.org/coar/resource_type/c_6501
status_str	publishedVersion
dc.identifier.issn.none.fl_str_mv	0121-7488
dc.identifier.uri.none.fl_str_mv	https://repositorio.uptc.edu.co/handle/001/18822
dc.identifier.doi.none.fl_str_mv	10.19053/uptc.01217488.v16.nE.2025.19781
dc.identifier.eissn.none.fl_str_mv	2462-7658
dc.identifier.url.none.fl_str_mv	https://doi.org/10.19053/uptc.01217488.v16.nE.2025.19781
identifier_str_mv	0121-7488 10.19053/uptc.01217488.v16.nE.2025.19781 2462-7658
url	https://repositorio.uptc.edu.co/handle/001/18822 https://doi.org/10.19053/uptc.01217488.v16.nE.2025.19781
dc.language.iso.none.fl_str_mv
language_invalid_str_mv
dc.relation.references.none.fl_str_mv	J. Zou, D. Wu, Y. Liu, y S. Tan, “Association of luteinizing hormone/choriogonadotropin receptor gene polymorphisms with polycystic ovary syndrome risk: a meta-analysis”, Gynecological Endocrinology, pp. 1-5, 2018, doi: 10.1080/09513590.2018.1498834. S. H. Sharami, Z. A. Ranjbar, F. Milani, y E. Kezem-nejad, “The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations , Anthropometric Indices and Metabolic Characteristics”, n.o 3, 2014. L. M. L. Carvalho, F. M. Dos Reis, A. L. Candido, F. F. C. Nunes, C. N. Ferreira, y K. B. Gomes, “Polycystic Ovary Syndrome as a systemic disease with multiple molecular pathways: A narrative review”, Endocrine Regulations, vol. 52, n.o 4, pp. 208-221, 2018. Z. J. Chen et al., “Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3”, Nature Genetics, vol. 43, n.o 1, pp. 55-59, 2010, doi: 10.1038/ng.732. Y. Shi et al., “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome”, Nature Genetics, vol. 44, n.o 9, pp. 1020-1025, 2012. P. Mutharasan et al., “Evidence for Chromosome 2p16.3 Polycystic Ovary Syndrome Susceptibility Locus in Affected Women of European Ancestry”, Journal of Clinical Endocrinology & Metabolism, vol. 98, n.o 12, pp. 185-190, 2013, doi: 10.1210/jc.2012. R. Saxena et al., “Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: Relationship to FSH levels and glucose tolerance”, Human Reproduction, vol. 30, no 6, pp. 1454-1459, 2015, J. J. Kim et al., “FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome”, Journal of Assisted Reproduction and Genetics, vol. 34, n.o 8, pp. 1087-1093, 2017, doi: 10.1007/s10815-017-0953-z. J. S. E. Laven, “Follicle stimulating hormone receptor (FSHR) polymorphisms and polycystic ovary syndrome (PCOS)”, Frontiers in Endocrinology, vol. 10, no FEB, 2019, doi: 10.3389/fendo.2019.00023. K. Shimizu et al., “Molecular mechanism of FSHR expression induced by BMP15 in human granulosa cells”, Journal of Assisted Reproduction and Genetics, vol. 36, no 6, pp. 1185-1194, 2019, doi:10.1007/s10815-019-01469-y. J. Shi et al., “The interference effects of bisphenol A on the synthesis of steroid hormones in human ovarian granulosa cells”, Environmental Toxicology, n.o November, pp. 1-10, 2020, doi: 10.1002/tox.23070. L. Casarini et al., “FSH for the treatment of male infertility”, International Journal of Molecular Sciences, vol. 21, n.o 7, pp. 1-21, 2020, doi: 10.3390/ijms21072270. S. Uchida et al., “Molecular Analysis of a Mutated FSH Receptor Detected in a Patient with Spontaneous Ovarian Hyperstimulation Syndrome”, PLoS ONE, vol. 8, n.o 9, pp. 1-15, 2013, doi: 10.1371/journal.pone.0075478. M. A. Brower et al., “Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genomewide association studies of chinese individuals”, Journal of Clinical Endocrinology and Metabolism, 2015, doi: 10.1210/jc.2014-2689. Hiam et al., “The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies”, Journal of Clinical Medicine, vol. 8, n.o 10, p. 1606, 2019. W. Y. Almawi, B. Hubail, y D. Z. Arekat, “Leutinizing hormone / choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome”, pp. 607-614, 2015. T. Du et al., “Statistical Genomic Approach Identifies Association between FSHR Polymorphisms and Polycystic Ovary Morphology in Women with Polycystic Ovary Syndrome”, BioMed Research International, 2015. T. Castillo-Higuera et al., “A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome”, Reproductive Sciences, 2020, doi: 10.1007/s43032-020-00375-4. M. C. Alarcón-Granados, H. Moreno-Ortíz, C. I. Esteban-Pérez, A. Ferrebuz-Cardozo, G. E. Camargo-Villalba, y M. Forero-Castro, “Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study”, Heliyon, vol. 8, n.o 6, p. e09673, jun. 2022. M. C. Alarcón-Granados, H. Moreno-Ortíz, M. RondónLagos, G. E. Camargo-Villalba, y M. Forero-Castro, “Study of LHCGR gene variants in a sample of colombian women with polycystic ovarian syndrome: A pilot study”, Journal of King Saud University - Science, vol. 34, n.o 6, p. 102202, ago. 2022. R. Deswal, S. Nanda, y A. S. Dang, “Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome”, Systems Biology in Reproductive Medicine, vol. 65, n.o 5, pp. 400-408, 2019. M. R. Jones et al., “Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity”, PLoS Genetics, 2015, doi: 10.1371/journal.pgen.1005455. N. Storm, B. Darnhofer-patel, D. V. D. Boom, y C. P. Rodi, MALDI-TOF Mass Spectrometry-Based SNP Genotyping, vol. 212. 2003. P. Oeth et al., “iPLEXTM Assay: Increased Plexing Efficiency and Flexibility for MassARRAY‚ System Through Single Base Primer Extension with Mass-Modified Terminators 1”, n.o 8876, pp. 1-12, 2005. S. Gabriel, L. Ziaugra, y D. Tabbaa, “SNP genotyping using the sequenom massARRAY iPLEX Platform”, Current Protocols in Human Genetics, n.o SUPPL. 60, 2009, doi: 10.1002/0471142905.hg0212s60. A. Capalbo et al., “The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2.7-fold increased risk of polycystic ovary syndrome in a Sardinian population”, Clinical Endocrinology, vol. 77, n.o 1, pp. 113-119, 2012, doi: 10.1111/j.1365-2265.2012.04372.x. U. Branavan, S. Wijesundera, V. Chandrasekaran, C. Arambepola, y C. Wijeyaratne, “In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: A Sri Lankan study”, BMC Medical Genetics, vol. 21, n.o 1, pp. 1-9, 2020, doi: 10.1186/s12881-020-0961-1. X. Solé, E. Guinó, J. Valls, R. Iniesta, y V. Moreno, “SNPStats: A web tool for the analysis of association studies”, Bioinformatics, vol. 22, n.o 15, pp. 1928-1929, 2006, doi: 10.1093/bioinformatics/btl268. J. C. Barrett, B. Fry, J. Maller, y M. J. Daly, “Haploview: Analysis and visualization of LD and haplotype maps”, Bioinformatics, vol. 21, n.o 2, pp. 263-265, 2005. K. Ding y I. J. Kullo, “Methods for the selection of tagging SNPs: A comparison of tagging efficiency and performance”, European Journal of Human Genetics, vol. 15, n.o 2, pp. 228-236, 2007, doi: 10.1038/sj.ejhg.5201755. I. Liaqat, N. Jahan, G. Krikun, y H. S. Taylor, “Genetic polymorphisms in Pakistani women with polycystic ovary syndrome”, Reproductive Sciences, vol. 22, n.o 3, pp. 347-357, 2015, doi: 10.1177/1933719114542015. U. Branavan, K. Muneeswaran, S. Wijesundera, S. Jayakody, V. Chandrasekharan, y C. Wijeyaratne, “Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques”, PLoS ONE, vol. 13, n.o 12, pp. 1-19, 2018, doi: 10.1371/journal.pone.0209830. W. Y. Almawi et al., “Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome”, Journal of Assisted Reproduction and Genetics, 2015, doi: 10.1007/s10815-015-0427-0. E. Dolfin, B. Guani, C. Lussiana, C. Mari, G. Restagno, y A. Revelli, “FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women”, Journal of Assisted Reproduction and Genetics, vol. 28, n.o 10, pp. 925-930, 2011. W. Singhasena, T. Pantasri, W. Piromlertamorn, S. Samchimchom, y T. Vutyavanich, “Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: A cross-sectional study”, Reproductive Biology and Endocrinology, vol. 12, n.o 1, pp. 1-7, 2014, doi:10.1186/1477-7827-12-86. D. J. Chen, R. Ding, J. Y. Cao, J. X. Zhai, J. X. Zhang, y D. Q. Ye, “Two follicle-stimulating hormone receptor polymorphisms and polycystic ovary syndrome risk: A meta-analysis”, European Journal of Obstetrics and Gynecology and Reproductive Biology, vol. 182, pp. 27-32, 2014, doi: 10.1016/j.ejogrb.2014.08.014. L. Fu et al., “Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women”, Journal of Assisted Reproduction and Genetics, 2013, doi: 10.1007/s10815-013-9979-z. J. S. E. Laven et al., “Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility”, Fertility and Sterility, vol. 80, n.o 4, pp. 986-992, 2003, doi: 10.1016/S00150282(03)01115-4. S. Catteau-Jonard, A. Brunel, A. Dumont, G. Robin, P. Pigny, y D. Dewailly, “Serum FSH level is lower in dysovulating than in ovulating non-PCOS obese women, independently of body mass index”, Annales d’Endocrinologie, vol. 80, n.o 4, pp. 225-228, 2019, doi: 10.1016/j.ando.2018.11.003. C. Coyle y R. E. Campbell, “Pathological pulses in PCOS”, Molecular and Cellular Endocrinology, vol. 498, n.o July, p. 110561, 2019, doi: 10.1016/j.mce.2019.110561. J. Vrbikova, M. Hill, y M. Fanta, “The utility of fasting plasma glucose to identify impaired glucose metabolism in women with polycystic ovary syndrome”, Gynecological Endocrinology, vol. 30, n.o 9, pp. 664-666, 2014, doi: 10.3109/09513590.2014.912265. R. P. Crespo, T. A. S. S. Bachega, B. B. Mendonça, y L. G. Gomes, “An update of genetic basis of PCOS pathogenesis”, Archives of Endocrinology and Metabolism, vol. 62, n.o 3, pp. 352-361, 2018. M. Ibitoye, C. Choi, H. Tai, G. Lee, y M. Sommer, “Early menarche: A systematic review of its effect on sexual and reproductive health in low- and middle-income countries”, PLoS ONE, vol. 12, n.o 6, pp. 1-24, 2017. S. Sadrzadeh et al., “Birth weight and age at menarche in patients with polycystic ovary syndrome or diminished ovarian reserve, in a retrospective cohort”, Human Reproduction, vol. 18, n.o 10, pp. 2225-2230, 2003. J. Cai et al., “High thyroid stimulating hormone level is associated with hyperandrogenism in euthyroid polycystic ovary syndrome (PCOS) women, independent of age, BMI, and thyroid autoimmunity: A cross-sectional analysis”, Frontiers in Endocrinology, vol. 10, n.o APR, pp. 1-8, 2019, doi: 10.3389/fendo.2019.00222. R. Dittrich, N. Kajaia, S. Cupisti, I. Hoffmann, M. W. Beckmann, y A. Mueller, “Association of thyroidstimulating hormne with insulin resistance and androgen parameters in women with PCOS.”, Reproductive biomedicine online, vol. 19, n.o 3, pp. 319-325, 2009. S. Sudo, M. Kudo, S. I. Wada, O. Sato, A. J. W. Hsueh, y S. Fujimoto, “Genetic and functional analyses of polymorphisms in the human FSH receptor gene”, Molecular Human Reproduction, vol. 8, n.o 10, pp. 893-899, 2002.
dc.relation.citationendpage.none.fl_str_mv	30
dc.relation.citationissue.spa.fl_str_mv	1E
dc.relation.citationstartpage.none.fl_str_mv	21
dc.relation.citationvolume.spa.fl_str_mv	16
dc.relation.ispartofjournal.spa.fl_str_mv	Ciencia en Desarrollo
dc.relation.bitstream.none.fl_str_mv	https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/download/19781/15870
dc.relation.citationedition.spa.fl_str_mv	Núm. 1E , Año 2025 : VII Encuentro Internacional de la Facultad de Ciencias (IMFaS 2024)
dc.rights.uri.none.fl_str_mv	https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
dc.rights.accessrights.none.fl_str_mv	info:eu-repo/semantics/openAccess
dc.rights.coar.none.fl_str_mv	http://purl.org/coar/access_right/c_abf2
rights_invalid_str_mv	https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es http://purl.org/coar/access_right/c_abf2
eu_rights_str_mv	openAccess
dc.format.mimetype.none.fl_str_mv	application/pdf
dc.publisher.spa.fl_str_mv	Universidad Pedagógica y Tecnológica de Colombia
dc.source.none.fl_str_mv	https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/19781
institution	Universidad Pedagógica y Tecnológica de Colombia
bitstream.url.fl_str_mv	https://repositorio.uptc.edu.co/bitstreams/59a7a429-8ac4-4371-bc05-d1f99b7f97c8/download
bitstream.checksum.fl_str_mv	61ee16292bc0280520beda83c54e51db
bitstream.checksumAlgorithm.fl_str_mv	MD5
repository.name.fl_str_mv	Repositorio Institucional UPTC
repository.mail.fl_str_mv	bdigital@metabiblioteca.com
_version_	1881674025522954240
spelling	Alarcón Granados, Maria CamilaMoreno-Ortíz, HaroldFerrebuz Cardozo, AtilioCamargo Villalba, GloriaForero Castro, Maribel2025-07-11 14:41:342026-04-16T17:13:11Z2025-07-11 14:41:342025-07-110121-7488https://repositorio.uptc.edu.co/handle/001/1882210.19053/uptc.01217488.v16.nE.2025.197812462-7658https://doi.org/10.19053/uptc.01217488.v16.nE.2025.19781application/pdfUniversidad Pedagógica y Tecnológica de Colombiahttps://creativecommons.org/licenses/by-nc-nd/4.0/deed.esinfo:eu-repo/semantics/openAccessEsta obra está bajo una licencia internacional Creative Commons Atribución-NoComercial-SinDerivadas 4.0.http://purl.org/coar/access_right/c_abf2https://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/view/19781Polimorfismo de nucleótido único; Hormona folículo-estimulante; Síndrome de ovario poliquístico; Mujeres colombianas.Single Nucleotide Polymorphism; Follicle-Stimulating Hormone Receptor; Polycystic Ovary Syndrome; Colombian women.Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianasArtículo de revistahttp://purl.org/coar/resource_type/c_6501http://purl.org/coar/resource_type/c_2df8fbb1info:eu-repo/semantics/articleJournal articleinfo:eu-repo/semantics/publishedVersionTexthttp://purl.org/coar/version/c_970fb48d4fbd8a85J. Zou, D. Wu, Y. Liu, y S. Tan, “Association of luteinizing hormone/choriogonadotropin receptor gene polymorphisms with polycystic ovary syndrome risk: a meta-analysis”, Gynecological Endocrinology, pp. 1-5, 2018, doi: 10.1080/09513590.2018.1498834.S. H. Sharami, Z. A. Ranjbar, F. Milani, y E. Kezem-nejad, “The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations , Anthropometric Indices and Metabolic Characteristics”, n.o 3, 2014.L. M. L. Carvalho, F. M. Dos Reis, A. L. Candido, F. F. C. Nunes, C. N. Ferreira, y K. B. Gomes, “Polycystic Ovary Syndrome as a systemic disease with multiple molecular pathways: A narrative review”, Endocrine Regulations, vol. 52, n.o 4, pp. 208-221, 2018.Z. J. Chen et al., “Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3”, Nature Genetics, vol. 43, n.o 1, pp. 55-59, 2010, doi: 10.1038/ng.732.Y. Shi et al., “Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome”, Nature Genetics, vol. 44, n.o 9, pp. 1020-1025, 2012.P. Mutharasan et al., “Evidence for Chromosome 2p16.3 Polycystic Ovary Syndrome Susceptibility Locus in Affected Women of European Ancestry”, Journal of Clinical Endocrinology & Metabolism, vol. 98, n.o 12, pp. 185-190, 2013, doi: 10.1210/jc.2012.R. Saxena et al., “Han Chinese polycystic ovary syndrome risk variants in women of European ancestry: Relationship to FSH levels and glucose tolerance”, Human Reproduction, vol. 30, no 6, pp. 1454-1459, 2015,J. J. Kim et al., “FSH receptor gene p. Thr307Ala and p. Asn680Ser polymorphisms are associated with the risk of polycystic ovary syndrome”, Journal of Assisted Reproduction and Genetics, vol. 34, n.o 8, pp. 1087-1093, 2017, doi: 10.1007/s10815-017-0953-z.J. S. E. Laven, “Follicle stimulating hormone receptor (FSHR) polymorphisms and polycystic ovary syndrome (PCOS)”, Frontiers in Endocrinology, vol. 10, no FEB, 2019, doi: 10.3389/fendo.2019.00023.K. Shimizu et al., “Molecular mechanism of FSHR expression induced by BMP15 in human granulosa cells”, Journal of Assisted Reproduction and Genetics, vol. 36, no 6, pp. 1185-1194, 2019, doi:10.1007/s10815-019-01469-y.J. Shi et al., “The interference effects of bisphenol A on the synthesis of steroid hormones in human ovarian granulosa cells”, Environmental Toxicology, n.o November, pp. 1-10, 2020, doi: 10.1002/tox.23070.L. Casarini et al., “FSH for the treatment of male infertility”, International Journal of Molecular Sciences, vol. 21, n.o 7, pp. 1-21, 2020, doi: 10.3390/ijms21072270.S. Uchida et al., “Molecular Analysis of a Mutated FSH Receptor Detected in a Patient with Spontaneous Ovarian Hyperstimulation Syndrome”, PLoS ONE, vol. 8, n.o 9, pp. 1-15, 2013, doi: 10.1371/journal.pone.0075478.M. A. Brower et al., “Further investigation in europeans of susceptibility variants for polycystic ovary syndrome discovered in genomewide association studies of chinese individuals”, Journal of Clinical Endocrinology and Metabolism, 2015, doi: 10.1210/jc.2014-2689.Hiam et al., “The Genetics of Polycystic Ovary Syndrome: An Overview of Candidate Gene Systematic Reviews and Genome-Wide Association Studies”, Journal of Clinical Medicine, vol. 8, n.o 10, p. 1606, 2019.W. Y. Almawi, B. Hubail, y D. Z. Arekat, “Leutinizing hormone / choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome”, pp. 607-614, 2015.T. Du et al., “Statistical Genomic Approach Identifies Association between FSHR Polymorphisms and Polycystic Ovary Morphology in Women with Polycystic Ovary Syndrome”, BioMed Research International, 2015.T. Castillo-Higuera et al., “A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome”, Reproductive Sciences, 2020, doi: 10.1007/s43032-020-00375-4.M. C. Alarcón-Granados, H. Moreno-Ortíz, C. I. Esteban-Pérez, A. Ferrebuz-Cardozo, G. E. Camargo-Villalba, y M. Forero-Castro, “Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study”, Heliyon, vol. 8, n.o 6, p. e09673, jun. 2022.M. C. Alarcón-Granados, H. Moreno-Ortíz, M. RondónLagos, G. E. Camargo-Villalba, y M. Forero-Castro, “Study of LHCGR gene variants in a sample of colombian women with polycystic ovarian syndrome: A pilot study”, Journal of King Saud University - Science, vol. 34, n.o 6, p. 102202, ago. 2022.R. Deswal, S. Nanda, y A. S. Dang, “Association of Luteinizing hormone and LH receptor gene polymorphism with susceptibility of Polycystic ovary syndrome”, Systems Biology in Reproductive Medicine, vol. 65, n.o 5, pp. 400-408, 2019.M. R. Jones et al., “Systems Genetics Reveals the Functional Context of PCOS Loci and Identifies Genetic and Molecular Mechanisms of Disease Heterogeneity”, PLoS Genetics, 2015, doi: 10.1371/journal.pgen.1005455.N. Storm, B. Darnhofer-patel, D. V. D. Boom, y C. P. Rodi, MALDI-TOF Mass Spectrometry-Based SNP Genotyping, vol. 212. 2003.P. Oeth et al., “iPLEXTM Assay: Increased Plexing Efficiency and Flexibility for MassARRAY‚ System Through Single Base Primer Extension with Mass-Modified Terminators 1”, n.o 8876, pp. 1-12, 2005.S. Gabriel, L. Ziaugra, y D. Tabbaa, “SNP genotyping using the sequenom massARRAY iPLEX Platform”, Current Protocols in Human Genetics, n.o SUPPL. 60, 2009, doi: 10.1002/0471142905.hg0212s60.A. Capalbo et al., “The 312N variant of the luteinizing hormone/choriogonadotropin receptor gene (LHCGR) confers up to 2.7-fold increased risk of polycystic ovary syndrome in a Sardinian population”, Clinical Endocrinology, vol. 77, n.o 1, pp. 113-119, 2012, doi: 10.1111/j.1365-2265.2012.04372.x.U. Branavan, S. Wijesundera, V. Chandrasekaran, C. Arambepola, y C. Wijeyaratne, “In depth analysis of the association of FTO SNP (rs9939609) with the expression of classical phenotype of PCOS: A Sri Lankan study”, BMC Medical Genetics, vol. 21, n.o 1, pp. 1-9, 2020, doi: 10.1186/s12881-020-0961-1.X. Solé, E. Guinó, J. Valls, R. Iniesta, y V. Moreno, “SNPStats: A web tool for the analysis of association studies”, Bioinformatics, vol. 22, n.o 15, pp. 1928-1929, 2006, doi: 10.1093/bioinformatics/btl268.J. C. Barrett, B. Fry, J. Maller, y M. J. Daly, “Haploview: Analysis and visualization of LD and haplotype maps”, Bioinformatics, vol. 21, n.o 2, pp. 263-265, 2005.K. Ding y I. J. Kullo, “Methods for the selection of tagging SNPs: A comparison of tagging efficiency and performance”, European Journal of Human Genetics, vol. 15, n.o 2, pp. 228-236, 2007, doi: 10.1038/sj.ejhg.5201755.I. Liaqat, N. Jahan, G. Krikun, y H. S. Taylor, “Genetic polymorphisms in Pakistani women with polycystic ovary syndrome”, Reproductive Sciences, vol. 22, n.o 3, pp. 347-357, 2015, doi: 10.1177/1933719114542015.U. Branavan, K. Muneeswaran, S. Wijesundera, S. Jayakody, V. Chandrasekharan, y C. Wijeyaratne, “Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques”, PLoS ONE, vol. 13, n.o 12, pp. 1-19, 2018, doi: 10.1371/journal.pone.0209830.W. Y. Almawi et al., “Leutinizing hormone/choriogonadotropin receptor and follicle stimulating hormone receptor gene variants in polycystic ovary syndrome”, Journal of Assisted Reproduction and Genetics, 2015, doi: 10.1007/s10815-015-0427-0.E. Dolfin, B. Guani, C. Lussiana, C. Mari, G. Restagno, y A. Revelli, “FSH-receptor Ala307Thr polymorphism is associated to polycystic ovary syndrome and to a higher responsiveness to exogenous FSH in Italian women”, Journal of Assisted Reproduction and Genetics, vol. 28, n.o 10, pp. 925-930, 2011.W. Singhasena, T. Pantasri, W. Piromlertamorn, S. Samchimchom, y T. Vutyavanich, “Follicle-stimulating hormone receptor gene polymorphism in chronic anovulatory women, with or without polycystic ovary syndrome: A cross-sectional study”, Reproductive Biology and Endocrinology, vol. 12, n.o 1, pp. 1-7, 2014, doi:10.1186/1477-7827-12-86.D. J. Chen, R. Ding, J. Y. Cao, J. X. Zhai, J. X. Zhang, y D. Q. Ye, “Two follicle-stimulating hormone receptor polymorphisms and polycystic ovary syndrome risk: A meta-analysis”, European Journal of Obstetrics and Gynecology and Reproductive Biology, vol. 182, pp. 27-32, 2014, doi: 10.1016/j.ejogrb.2014.08.014.L. Fu et al., “Association study between FSHR Ala307Thr and Ser680Asn variants and polycystic ovary syndrome (PCOS) in Northern Chinese Han women”, Journal of Assisted Reproduction and Genetics, 2013, doi: 10.1007/s10815-013-9979-z.J. S. E. Laven et al., “Follicle-stimulating hormone receptor polymorphisms in women with normogonadotropic anovulatory infertility”, Fertility and Sterility, vol. 80, n.o 4, pp. 986-992, 2003, doi: 10.1016/S00150282(03)01115-4.S. Catteau-Jonard, A. Brunel, A. Dumont, G. Robin, P. Pigny, y D. Dewailly, “Serum FSH level is lower in dysovulating than in ovulating non-PCOS obese women, independently of body mass index”, Annales d’Endocrinologie, vol. 80, n.o 4, pp. 225-228, 2019, doi: 10.1016/j.ando.2018.11.003.C. Coyle y R. E. Campbell, “Pathological pulses in PCOS”, Molecular and Cellular Endocrinology, vol. 498, n.o July, p. 110561, 2019, doi: 10.1016/j.mce.2019.110561.J. Vrbikova, M. Hill, y M. Fanta, “The utility of fasting plasma glucose to identify impaired glucose metabolism in women with polycystic ovary syndrome”, Gynecological Endocrinology, vol. 30, n.o 9, pp. 664-666, 2014, doi: 10.3109/09513590.2014.912265.R. P. Crespo, T. A. S. S. Bachega, B. B. Mendonça, y L. G. Gomes, “An update of genetic basis of PCOS pathogenesis”, Archives of Endocrinology and Metabolism, vol. 62, n.o 3, pp. 352-361, 2018.M. Ibitoye, C. Choi, H. Tai, G. Lee, y M. Sommer, “Early menarche: A systematic review of its effect on sexual and reproductive health in low- and middle-income countries”, PLoS ONE, vol. 12, n.o 6, pp. 1-24, 2017.S. Sadrzadeh et al., “Birth weight and age at menarche in patients with polycystic ovary syndrome or diminished ovarian reserve, in a retrospective cohort”, Human Reproduction, vol. 18, n.o 10, pp. 2225-2230, 2003.J. Cai et al., “High thyroid stimulating hormone level is associated with hyperandrogenism in euthyroid polycystic ovary syndrome (PCOS) women, independent of age, BMI, and thyroid autoimmunity: A cross-sectional analysis”, Frontiers in Endocrinology, vol. 10, n.o APR, pp. 1-8, 2019, doi: 10.3389/fendo.2019.00222.R. Dittrich, N. Kajaia, S. Cupisti, I. Hoffmann, M. W. Beckmann, y A. Mueller, “Association of thyroidstimulating hormne with insulin resistance and androgen parameters in women with PCOS.”, Reproductive biomedicine online, vol. 19, n.o 3, pp. 319-325, 2009.S. Sudo, M. Kudo, S. I. Wada, O. Sato, A. J. W. Hsueh, y S. Fujimoto, “Genetic and functional analyses of polymorphisms in the human FSH receptor gene”, Molecular Human Reproduction, vol. 8, n.o 10, pp. 893-899, 2002.301E2116Ciencia en Desarrollohttps://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/download/19781/15870Núm. 1E , Año 2025 : VII Encuentro Internacional de la Facultad de Ciencias (IMFaS 2024)PublicationOREORE.xmltext/xml2867https://repositorio.uptc.edu.co/bitstreams/59a7a429-8ac4-4371-bc05-d1f99b7f97c8/download61ee16292bc0280520beda83c54e51dbMD51falseAnonymousREAD001/18822oai:repositorio.uptc.edu.co:001/188222026-10-30 07:04:18.591https://creativecommons.org/licenses/by-nc-nd/4.0/deed.esmetadata.onlyhttps://repositorio.uptc.edu.coRepositorio Institucional UPTCbdigital@metabiblioteca.com

Estudio piloto de polimorfismos en FSHR y el síndrome de ovario poliquístico en mujeres colombianas

Publicaciones similares