Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico
- Autores:
-
Castillo Higuera, Tatiana
Moreno Ortíz, Harold
Esteban Pérez, Clara Inés
Alarcón Granados, Maria Camila
Ferrebuz Cardozo, Atilio
Camargo Villalba, Gloria
Forero Castro, Maribel
- Tipo de recurso:
- Article of journal
- Fecha de publicación:
- 2026
- Institución:
- Universidad Pedagógica y Tecnológica de Colombia
- Repositorio:
- RiUPTC: Repositorio Institucional UPTC
- Idioma:
- spa
- OAI Identifier:
- oai:repositorio.uptc.edu.co:001/18855
- Acceso en línea:
- https://repositorio.uptc.edu.co/handle/001/18855
https://doi.org/10.19053/uptc.01217488.v16.n2E.2025.19958
- Palabra clave:
- DENND1A, loci de susceptibilidad, asociaciones genéticas, polimorfismos, SOP.
DENND1A, susceptibility loci, genetic associations, polymorphisms, PCOS.
- Rights
- openAccess
- License
- https://creativecommons.org/licenses/by-nc-nd/4.0/deed.es
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Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| title |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| spellingShingle |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico DENND1A, loci de susceptibilidad, asociaciones genéticas, polimorfismos, SOP. DENND1A, susceptibility loci, genetic associations, polymorphisms, PCOS. |
| title_short |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| title_full |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| title_fullStr |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| title_full_unstemmed |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| title_sort |
Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario Poliquistico |
| dc.creator.fl_str_mv |
Castillo Higuera, Tatiana Moreno Ortíz, Harold Esteban Pérez, Clara Inés Alarcón Granados, Maria Camila Ferrebuz Cardozo, Atilio Camargo Villalba, Gloria Forero Castro, Maribel |
| dc.contributor.author.spa.fl_str_mv |
Castillo Higuera, Tatiana Moreno Ortíz, Harold Esteban Pérez, Clara Inés Alarcón Granados, Maria Camila Ferrebuz Cardozo, Atilio Camargo Villalba, Gloria Forero Castro, Maribel |
| dc.subject.none.fl_str_mv |
DENND1A, loci de susceptibilidad, asociaciones genéticas, polimorfismos, SOP. DENND1A, susceptibility loci, genetic associations, polymorphisms, PCOS. |
| topic |
DENND1A, loci de susceptibilidad, asociaciones genéticas, polimorfismos, SOP. DENND1A, susceptibility loci, genetic associations, polymorphisms, PCOS. |
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2026 |
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2026-10-26 10:21:04 |
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2026-10-26 10:21:04 |
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2026-10-26 |
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Y. Zou, F.-F. Zhu, C.-Y. Fang, X.-Y. Xiong, y H.-Y. Li, «Identification of Potential Biomarkers for Urine Metabolomics of Polycystic Ovary Syndrome Based on Gas Chromatography-Mass Spectrometry», Chin Med J (Engl), vol. 131, n.o 8, pp. 945-949, abr. 2018, doi: 10.4103/0366-6999.229899. [2] B. C. J. M. Fauser, «Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome», Fertility and Sterility, vol. 81, n.o 1, pp. 19-25, 2004, doi: 10.1016/j.fertnstert.2003.10.004. [3] J. Bellver et al., «Polycystic ovary syndrome throughout a woman’s life», Journal of Assisted Reproduction and Genetics, 2018, doi: 10.1007/s10815-017-1047-7. [4] V. Dharani, S. Nishu, y L. Hariprasath, «PCOS and genetics: Exploring the heterogeneous role of potential genes in ovarian dysfunction, a hallmark of PCOS - A review», Reprod Biol, vol. 25, n.o 2, p. 101017, abr. 2025, doi: 10.1016/j.repbio.2025.101017. [5] 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. [6] C. K. Welt et al., «Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry», Journal of Clinical Endocrinology and Metabolism, vol. 97, n.o 7, pp. 1342-1347, 2012, doi: 10.1210/jc.2011-3478. [7] F. Day et al., «Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria», PLoS Genetics, vol. 14, n.o 12, pp. 1-20, 2018, doi: 10.1371/journal.pgen.1007813. [8] 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, doi: 10.1155/2015/483726. [9] R. Robeva, S. Andonova, A. Tomova, P. Kumanov, y A. Savov, «LHCG receptor polymorphisms in PCOS patients», Biotechnology and Biotechnological Equipment, 2018, doi: 10.1080/13102818.2017.1423246. [10] M. X. Zheng, Y. Li, R. Hu, F. M. Wang, X. M. Zhang, y B. Guan, «Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance», Journal of Assisted Reproduction and Genetics, 2016, doi: 10.1007/s10815-015-0641-9. [11] F. A. Al Hannan, P. A. O’Farrell, M. P. Morgan, O. Tighe, y K. G. Culligan, «Associations between single-nucleotide polymorphisms of ADIPOQ, serum adiponectin and increased type 2 diabetes mellitus risk in Bahraini individuals», Eastern Mediterranean Health Journal, vol. 22, n.o 08, pp. 611-618, 2017, doi: 10.26719/2016.22.8.611. [12] A. L. Liu et al., «Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: A systematic review and meta-analysis», BMC Medical Genetics, vol. 18, n.o 1, pp. 1-7, 2017, doi: 10.1186/s12881-017-0452-1. [13] Y. Lv et al., «Association study of HNF1A in women with polycystic ovary syndrome», Journal of Assisted Reproduction and Genetics, vol. 34, n.o 5, pp. 677-682, 2017, doi: 10.1007/s10815-017-0905-7. [14] A. Mehdizadeh, S. M. Kalantar, M. H. Sheikhha, B. S. Aali, y A. Ghanei, «Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women», International Journal of Reproductive BioMedicine, vol. 15, n.o 8, pp. 491-496, 2018, doi: 10.29252/ijrm.15.8.491. [15] 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, doi: 10.1038/ng.2384. [16] J. C. Barrett et al., «Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes», Nat Genet, vol. 41, n.o 6, pp. 703-707, jun. 2009, doi: 10.1038/ng.381. [17] 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. [18] A. L. Marat, H. Dokainish, y P. S. McPherson, «DENN domain proteins: Regulators of Rab GTPases», Journal of Biological Chemistry, vol. 286, n.o 16, pp. 13791-13800, 2011, doi: 10.1074/jbc.R110.217067. [19] J. F. Strauss, J. M. McAllister, y M. Urbanek, «Persistence pays off for PCOS gene prospectors», Journal of Clinical Endocrinology and Metabolism, 2012. doi: 10.1210/jc.2012-2109. [20] C. B. Larsen, E. Kudela, y K. Biringer, «Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis», JBRA Assist Reprod, vol. 27, n.o 1, pp. 60-70, mar. 2023, doi: 10.5935/1518-0557.20220043. [21] M. O. Goodarzi et al., «Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts», Journal of Medical Genetics, 2012, doi: 10.1136/jmedgenet-2011-100427. [22] L. Cui et al., «Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women», Human Reproduction, 2013, doi: 10.1093/humrep/des424. [23] 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, doi: 10.1016/j.heliyon.2022.e09673. [24] 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. [25] L. Cui et al., «Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature», Human Reproduction, vol. 30, n.o 3, pp. 732-736, 2015, doi: 10.1093/humrep/deu361. [26] E. Gammoh, M. R. Arekat, F. L. Saldhana, S. Madan, B. H. Ebrahim, y W. Y. Almawi, «DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome», Gene, vol. 560, n.o 1, pp. 30-33, 2015, doi: 10.1016/j.gene.2015.01.034. [27] 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. [28] D. A. Dumesic, S. E. Oberfield, E. Stener-victorin, J. C. Marshall, J. S. Laven, y R. S. Legro, «Epidemiology , Pathophysiology , and Molecular Genetics of Polycystic Ovary Syndrome», vol. 36, n.o October 2015, pp. 487-525, 2018, doi: 10.1210/er.2015-1018. [29] E. Lerchbaum, O. Trummer, A. Giuliani, H. J. Gruber, T. Pieber, y B. Obermayer-Pietsch, «Susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21, and 9q33.3 in a cohort of Caucasian women», Hormone and Metabolic Research, 2011, doi: 10.1055/s-0031-1286279. [30] M. Dallel et al., «Differential association of DENND1A genetic variants with polycystic ovary syndrome in Tunisian but not Bahraini Arab women», Gene, vol. 647, pp. 79-84, mar. 2018, doi: 10.1016/j.gene.2018.01.028. [31] Z. Wang et al., «Variants in DENND1A and LHCGR are associated with endometrioid adenocarcinoma», Gynecologic Oncology, 2012, doi: 10.1016/j.ygyno.2012.08.007. [32] E. Carmina, «The Role of Gene Alterations in the Pathogenesis of Polycystic Ovary Syndrome», J Clin Med, vol. 14, n.o 10, p. 3347, may 2025, doi: 10.3390/jcm14103347. [33] Y.-N. Zhu et al., «Association analysis between the tag single nucleotide polymorphisms of DENND1A and the risk of polycystic ovary syndrome in Chinese Han women», BMC Med Genet, vol. 21, n.o 1, p. 14, ene. 2020, doi: 10.1186/s12881-019-0945-1. [34] M. Dapas, R. Sisk, R. S. Legro, M. Urbanek, A. Dunaif, y M. G. Hayes, «Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome», The Journal of Clinical Endocrinology & Metabolism, vol. 104, n.o 9, pp. 3835-3850, sep. 2019, doi: 10.1210/jc.2018-02496. |
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Castillo Higuera, TatianaMoreno Ortíz, HaroldEsteban Pérez, Clara InésAlarcón Granados, Maria CamilaFerrebuz Cardozo, AtilioCamargo Villalba, GloriaForero Castro, Maribel2026-10-26 10:21:042026-10-26 10:21:042026-10-260121-7488https://repositorio.uptc.edu.co/handle/001/1885510.19053/uptc.01217488.v16.n2E.2025.199582462-7658https://doi.org/10.19053/uptc.01217488.v16.n2E.2025.19958application/pdfspaUniversidad 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/19958DENND1A, loci de susceptibilidad, asociaciones genéticas, polimorfismos, SOP.DENND1A, susceptibility loci, genetic associations, polymorphisms, PCOS.Caracterización de polimorfismos del Gen Dennd1a en mujeres Colombianas con síndrome de Ovario PoliquisticoArtículo 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_970fb48d4fbd8a85Y. Zou, F.-F. Zhu, C.-Y. Fang, X.-Y. Xiong, y H.-Y. Li, «Identification of Potential Biomarkers for Urine Metabolomics of Polycystic Ovary Syndrome Based on Gas Chromatography-Mass Spectrometry», Chin Med J (Engl), vol. 131, n.o 8, pp. 945-949, abr. 2018, doi: 10.4103/0366-6999.229899. [2] B. C. J. M. Fauser, «Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome», Fertility and Sterility, vol. 81, n.o 1, pp. 19-25, 2004, doi: 10.1016/j.fertnstert.2003.10.004. [3] J. Bellver et al., «Polycystic ovary syndrome throughout a woman’s life», Journal of Assisted Reproduction and Genetics, 2018, doi: 10.1007/s10815-017-1047-7. [4] V. Dharani, S. Nishu, y L. Hariprasath, «PCOS and genetics: Exploring the heterogeneous role of potential genes in ovarian dysfunction, a hallmark of PCOS - A review», Reprod Biol, vol. 25, n.o 2, p. 101017, abr. 2025, doi: 10.1016/j.repbio.2025.101017. [5] 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. [6] C. K. Welt et al., «Variants in DENND1A are associated with polycystic ovary syndrome in women of European ancestry», Journal of Clinical Endocrinology and Metabolism, vol. 97, n.o 7, pp. 1342-1347, 2012, doi: 10.1210/jc.2011-3478. [7] F. Day et al., «Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria», PLoS Genetics, vol. 14, n.o 12, pp. 1-20, 2018, doi: 10.1371/journal.pgen.1007813. [8] 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, doi: 10.1155/2015/483726. [9] R. Robeva, S. Andonova, A. Tomova, P. Kumanov, y A. Savov, «LHCG receptor polymorphisms in PCOS patients», Biotechnology and Biotechnological Equipment, 2018, doi: 10.1080/13102818.2017.1423246. [10] M. X. Zheng, Y. Li, R. Hu, F. M. Wang, X. M. Zhang, y B. Guan, «Anti-Müllerian hormone gene polymorphism is associated with androgen levels in Chinese polycystic ovary syndrome patients with insulin resistance», Journal of Assisted Reproduction and Genetics, 2016, doi: 10.1007/s10815-015-0641-9. [11] F. A. Al Hannan, P. A. O’Farrell, M. P. Morgan, O. Tighe, y K. G. Culligan, «Associations between single-nucleotide polymorphisms of ADIPOQ, serum adiponectin and increased type 2 diabetes mellitus risk in Bahraini individuals», Eastern Mediterranean Health Journal, vol. 22, n.o 08, pp. 611-618, 2017, doi: 10.26719/2016.22.8.611. [12] A. L. Liu et al., «Association between fat mass and obesity associated (FTO) gene rs9939609 A/T polymorphism and polycystic ovary syndrome: A systematic review and meta-analysis», BMC Medical Genetics, vol. 18, n.o 1, pp. 1-7, 2017, doi: 10.1186/s12881-017-0452-1. [13] Y. Lv et al., «Association study of HNF1A in women with polycystic ovary syndrome», Journal of Assisted Reproduction and Genetics, vol. 34, n.o 5, pp. 677-682, 2017, doi: 10.1007/s10815-017-0905-7. [14] A. Mehdizadeh, S. M. Kalantar, M. H. Sheikhha, B. S. Aali, y A. Ghanei, «Association of SNP rs.2414096 CYP19 gene with polycystic ovarian syndrome in Iranian women», International Journal of Reproductive BioMedicine, vol. 15, n.o 8, pp. 491-496, 2018, doi: 10.29252/ijrm.15.8.491. [15] 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, doi: 10.1038/ng.2384. [16] J. C. Barrett et al., «Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes», Nat Genet, vol. 41, n.o 6, pp. 703-707, jun. 2009, doi: 10.1038/ng.381. [17] 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. [18] A. L. Marat, H. Dokainish, y P. S. McPherson, «DENN domain proteins: Regulators of Rab GTPases», Journal of Biological Chemistry, vol. 286, n.o 16, pp. 13791-13800, 2011, doi: 10.1074/jbc.R110.217067. [19] J. F. Strauss, J. M. McAllister, y M. Urbanek, «Persistence pays off for PCOS gene prospectors», Journal of Clinical Endocrinology and Metabolism, 2012. doi: 10.1210/jc.2012-2109. [20] C. B. Larsen, E. Kudela, y K. Biringer, «Association of FSHR and DENND1A polymorphisms with polycystic ovary syndrome: a meta-analysis», JBRA Assist Reprod, vol. 27, n.o 1, pp. 60-70, mar. 2023, doi: 10.5935/1518-0557.20220043. [21] M. O. Goodarzi et al., «Replication of association of DENND1A and THADA variants with polycystic ovary syndrome in European cohorts», Journal of Medical Genetics, 2012, doi: 10.1136/jmedgenet-2011-100427. [22] L. Cui et al., «Genotype-phenotype correlations of PCOS susceptibility SNPs identified by GWAS in a large cohort of Han Chinese women», Human Reproduction, 2013, doi: 10.1093/humrep/des424. [23] 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, doi: 10.1016/j.heliyon.2022.e09673. [24] 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. [25] L. Cui et al., «Polycystic ovary syndrome susceptibility single nucleotide polymorphisms in women with a single PCOS clinical feature», Human Reproduction, vol. 30, n.o 3, pp. 732-736, 2015, doi: 10.1093/humrep/deu361. [26] E. Gammoh, M. R. Arekat, F. L. Saldhana, S. Madan, B. H. Ebrahim, y W. Y. Almawi, «DENND1A gene variants in Bahraini Arab women with polycystic ovary syndrome», Gene, vol. 560, n.o 1, pp. 30-33, 2015, doi: 10.1016/j.gene.2015.01.034. [27] 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. [28] D. A. Dumesic, S. E. Oberfield, E. Stener-victorin, J. C. Marshall, J. S. Laven, y R. S. 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Hayes, «Family-Based Quantitative Trait Meta-Analysis Implicates Rare Noncoding Variants in DENND1A in Polycystic Ovary Syndrome», The Journal of Clinical Endocrinology & Metabolism, vol. 104, n.o 9, pp. 3835-3850, sep. 2019, doi: 10.1210/jc.2018-02496.532E3216Ciencia en Desarrollohttps://revistas.uptc.edu.co/index.php/ciencia_en_desarrollo/article/download/19958/16070Núm. 2E , Año 2025 : II Jornada de Investigación en Ciencias BiomédicasPublicationOREORE.xmltext/xml3003https://repositorio.uptc.edu.co/bitstreams/d65b1db0-d8ae-4862-876d-37f71f3e40fa/download6b779d7523f644246b04935117ff34adMD51falseAnonymousREAD001/18855oai:repositorio.uptc.edu.co:001/188552026-10-30 07:02:39.455https://creativecommons.org/licenses/by-nc-nd/4.0/deed.esmetadata.onlyhttps://repositorio.uptc.edu.coRepositorio Institucional UPTCbdigital@metabiblioteca.com |
