Deconstruyendo un síndrome: información genómica sobre el SOP. Mecanismos Causales y Clasificación.
Revista SAEGRE
pdf
html

Palabras clave

sindrome de Ovario poliquistico
PCOS
acceso a andrógenos
genética
genómica
epigenética

Cómo citar

1.
Cerrone GE. Deconstruyendo un síndrome: información genómica sobre el SOP. Mecanismos Causales y Clasificación. RSAEGRE [Internet]. 1 de junio de 2023 [citado 9 de diciembre de 2024];30(1):21-34. Disponible en: https://revistasaegre.com.ar/index.php/revista/article/view/9

Resumen

El síndrome de ovario poliquístico (SOP) es una de las principales alteraciones endócrinas y reproductivas que afecta hasta un 15% de las mujeres en edad reproductiva. Es una condición multifactorial compleja con orígenes genéticos y ambientales, influenciado por el estilo de vida. El trabajo mencionado realiza una excelente y profunda investigación que brinda información actualizada para el conocimiento de las bases clínicas, bioquímicas y un enfoque exhaustivo sobre la arquitectura genética; así como, el entendimiento del impacto de los factores ambientales intrauterinos. Se describen directrices futuras a partir de los estudios genéticos del SOP. En el presente trabajo se analizará la revisión de Matthew Dapas y Andrea Dunaif: Deconstruyendo un síndrome: información genómica sobre el SOP. Mecanismos Causales y Clasificación.

pdf
html

Citas

Dapas M, & Dunaif A. Deconstructing a Syndrome: Genomic insights into PCOS causal mechanisms and classification. Endocrine reviews. 2002; 43(6), 927–965.

Azziz R, Carmina E, Chen Z, Dunaif A, Laven JSE, Legro RS, Lizneva D, Natterson-Horowtiz B, y col. Polycystic ovary syndrome. Nat Rev Dis Primers 2016; 2:16057.

National Institutes of Health. Evidence-based Methodology Workshop on Polycystic Ovary Syndrome - Final Report. Dec 3–5, 2012. https://prevention.nih.gov/researchpriorities/research-needs-and-gaps/pathways-prevention/evidencebased-methodology-workshop-polycystic-ovary-syndrome-pcos

Legro RS, Arslanian SA, Ehrmann DA, y col.; Endocrine Society.Diagnosis and treatment of polycystic ovary syndrome: an Endocrine Society clinical practice guideline. J Clin Endocrinol Metab. 2013;98(12):4565-4592.

Teede HJ, Misso ML, Costello MF, y col.; International PCOS Network. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome. Clin Endocrinol (Oxf). 2018;89(3):251-268.

Teede HJ, Misso ML, Costello MF, y col.; International PCOS Network. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome. Fertil Steril. 2018;110(3):364-379.

Teede HJ, Misso ML, Costello MF, y col.; International PCOS Network. Recommendations from the international evidence-based guideline for the assessment and management of polycystic ovary syndrome. Hum Reprod. 2018;33(9):1602-1618.

Azziz R, Carmina E, Dewailly D, Diamanti-Kandarakis E, Escobar-Morreale HF, Futterweit W, y col. Positions statement: criteria for defining polycystic ovary syndrome as a predominantly hyperandrogenic syndrome: An Androgen Excess Society guideline. J Clin Endocrinol Metab. 2006; 91, 4237-4245.

Vink JM, Sadrzadeh S, Lambalk CB, Boomsma DI. Heritability of polycystic ovary syndrome in a Dutch twin-family study. J Clin Endocrinol Metab. 2006;91(6):2100-2104.

Hiam D, Moreno-Asso A, Teede HJ, y col. The genetics of polycystic ovary syndrome: an overview of candidate gene systematic reviews and genome-wide association studies. J Clin Med. 2019;8(10):1606.

Chen ZJ, Zhao H, He L, et al. Genome-wide association study identifies susceptibility loci for polycystic ovary syndrome on chromosome 2p16.3, 2p21 and 9q33.3. Nat Genet.2011;43(1):55-59.

Shi Y, Zhao H, Shi Y, y col. Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. Nat Genet. 2012;44(9):1020-1025.

Hayes MG, Urbanek M, Ehrmann DA, et al.; Reproductive Medicine Network. Genome-wide association of polycystic ovary syndrome implicates alterations in gonadotropin secretion in European ancestry populations. Nat Commun. 2015;6:7502.

Day FR, Hinds DA, Tung JY, y col. Causal mechanisms and balancing selection inferred from genetic associations with polycystic ovary syndrome. Nat Commun. 2015;6:8464.

Hwang JY, Lee EJ, Jin Go M, y col. Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition. J Hum Genet. 2012;57(10):660-664.

Lee H, Oh JY, Sung YA, y col. Genome-wide association study identified new susceptibility loci for polycystic ovary syndrome. Hum Reprod. 2015;30(3):723-731.

Day F, Karaderi T, Jones MR, y col.; 23andMe Research Team. Large-scale genome-wide meta-analysis of polycystic ovary syndrome suggests shared genetic architecture for different diagnosis criteria. Plos Genet. 2018;14(12):e1007813.

Zhang Y, Ho K, Keaton JM, y col. A genome-wide association study of polycystic ovary síndrome identified from electronic health records. Am J Obstet Gynecol. 2020;223(4):559. e1-559.e21.

Azziz R, Dumesic DA, Goodarzi MO. Polycystic ovary syndrome: an ancient disorder? Fertil Steril. 2011;95(5):1544-1548.

Prabhu, B.N., Kanchamreddy, S.H., Sharma, A.R. y col. Conceptualization of functional single nucleotide polymorphisms of polycystic ovarian syndrome genes: an in silico approach. J Endocrinol Invest 44, 1783–1793 (2021). https://doi.org/10.1007/s40618-021-01498-4

Sharma, M., Barai, R.S., Kundu, I., Bhaye S., Pokar K., Idicula-Thomas S. PCOSKBR2: a database of genes, diseases, pathways, and networks associated with polycystic ovary syndrome. Sci Rep. 2020; 10, 14738.

Azziz R. Introduction: determinants of polycystic ovary syndrome. Fertil Steril 2016;106:4–5.

Devarbhavi, P., Telang, L., Vastrad, B. y col. Identification of key pathways and genes in polycystic ovary syndrome via integrated bioinformatics analysis and prediction of small therapeutic molecules. Reprod Biol Endocrinol 19, 31 (2021).

Dewailly D, Alebić MŠ, Duhamel A, Stojanović N. Using cluster analysis to identify a homogeneous subpopulation of women with polycystic ovarian morphology in a population of nonhyperandrogenic women with regular menstrual cycles. Hum Reprod. 2014;29(11):2536-2543.

Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, y col. Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process. Cell Metab. 2021 Mar 2;33(3):513-530.e8. doi: 10.1016/j.cmet.2021.01.004. Epub 2021 Feb 3. PMID: 33539777; PMCID: PMC7928942.

Descargas

Los datos de descargas todavía no están disponibles.