Genetic markers in patients with polycystic ovary syndrome and in two relatives in the first degree of consanguinity. Case control study
DOI:
https://doi.org/10.18597/rcog.118Keywords:
Polycystic ovary syndrome, genetic markers, hyperandrogenism, consanguinityAbstract
Objective: To estimate the association between genetic markers D19S884 and UCSNP-19 and Polycystic Ovary Syndrome (PCOS).
Materials and methods: Study of 50 cases of PCOS consistent with the Rotterdam criteria and of 100 controls and two first-degree female relatives without the disease. Social, demographic and clinical characteristics were assessed, and genetic markers D19S884 and UCSNP-19 were identified using polymerase chain reaction. Quantitative variables are expressed as mean ± standard deviation; the Student t test and the McNemar test were used. Odds ratios and 95% confidence intervals were estimated.
Results: Mean ages were 23 ± 6 years and 39 ± 18 years for the cases and controls, respectively. Cases showed a significant association with hirsutism OR = 3.6 (CI 95%: 1.3-12.8) and acne OR = 4.3 (CI 95%: 91.4-17.4). Del/ins and ins/ins polymorphisms of UCSNP-19 were found in the highest proportions in the two study groups, the former being more frequent among the cases and the latter among the controls. However, this difference was not statistically significant. Fourteen alleles of D19S884 were identified, ranging from 215 to 242 bp.
Conclusions: No association was found between the CAPN10 gene UCSNP-19 polymorphism and the D19S994 marker with PCOS in the population studied.
Author Biographies
María Patricia Hormaza-Ángel
Camilo Andrés Agudelo-Vélez
Isabel Cristina Ortiz-Trujillo
Lina María Martínez-Sánchez
María de los Ángeles Rodríguez-Gázquez
Johan Sebastián Lopera-Valle
Diana Catalina Jaramillo-González
Andrea Jhoanna Manrique-Rincón
Juan José Builes-Gómez
Biólogo, Magíster en Biología. GENES Ltda. Medellín, Colombia.
References
Norman RJ, Dewailly D, Legro RS, Hickey TE. Polycystic ovary syndrome. Lancet. 2007;370:685-97.
Amato P, Simpson JL. The genetics of polycystic ovary syndrome. Best Pract Res Clin Obstet Gynaecol. 2004;18:707-18.
Carmina E. Genetic and environmental aspect of polycystic ovary syndrome. J Endocrinol Invest. 2003;26:1151-9.
Diamanti-Kandarakis E, Piperi C. Genetics of polycystic ovary syndrome: searching for the way out of the labyrinth. Hum Reprod Update. 2005;11:631-43.
Vollmert C, Hahn S, Lamina C, Huth C, Kolz M, Schöpfer-Wendels A, et al. Calpain-10 variants and haplotypes are associated with polycystic ovary syndrome in Caucasians. Am J Physiol Endocrinol Metab. 2007;292:E836-44.
Horikawa Y, Oda N, Cox NJ, Li X, Orho-Melander M, Hara M, et al. Genetic variation in the gene encoding calpain-10 is associated with type 2 diabetes mellitus. Nat Genet. 2000;26:163-75.
Sorbara LR, Tang Z, Cama A, Xia J, Schenker E, Kohanski RA, et al. Absence of insulin receptor gene mutations in three insulin-resistant women with the polycystic ovary syndrome. Metabolism. 1994;43:1568-74.
Talbot JA, Bicknell EJ, Rajkhowa M, Krook A, Orahilly S, Clayton RN. Molecular scanning of the insulin receptor gene in women with polycystic ovarian syndrome. J Clin Endocrinol Metab. 1996;81:1979-83.
Tucci S, Futterweit W, Concepcion ES, Greenberg DA, Villanueva R, Davies TF, et al. Evidence for association of polycystic ovary síndrome in Caucasian women with a marker at the insulin receptor gene locus. J Clin Endocrinol Metab. 2001;86:446-9.
Urbanek M, Woodroffe A, McAllister J, Legro RS, Driscoll DA, Strauss JF, et al. Analysis of candidate gene region for polycystic ovary síndrome (PCOS) on Chr19p13. Eur J Hum Genet. 2001;9(Suppl 1):375.
Rotterdam ESHRE/ASRM-Sponsored PCOS Consensus Workshop Group. Revised 2003 consensus on diagnostic criteria and long-term health risks related to polycystic ovary syndrome. Fertil Steril. 2004;81:19-25.
Balen AH, Laven JS, Tan SL, Dewailly D. Ultrasound assessment of the polycystic ovary: international consensus definitions. Hum Reprod Update. 2003;9:505-14.
Salazar LA, Hirata M, Cavalli SA, Machado MO, Hirata RD. Optimized procedure DNA isolation from fresh and cryopreserved clotted human blood useful in clinical molecular testing. Clin Chem. 1998;44:1748-50.
González A, Abril E, Roca A, Aragón MJ, Figueroa MJ, Velarde P, et al. CAPN10 alleles are associated with polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87:3971-6.
Ehrmann DA, Schwarz PE, Hara M, Tang X, Horikawa Y, Imperial J, et al. Relationship of calpain-10 genotype to phenotypic features of polycystic ovary syndrome. J Clin Endocrinol Metab. 2002;87:1669-73.
González A, Abril E, Roca A, Aragón MJ, Figueroa MJ, Velarde P, et al. Specific CAPN10 haplotypes influence the clinical profile of polycystic ovary patients. J Clin Endocrinol Metab. 2003;88:5529-36.
Wiltgen D, Furtado L, Kohek MB, Spritzer PM. CAPN10 UCSNP-43, UCSNP-19 and UCSNP-63 polymorphisms and metabolic syndrome in polycystic ovary syndrome. Gynecol Endocrinol. 2007;23:173-8.
Márquez J, Pacheco A, Valdés P, Salazar L. Association between CAPN10 UCSNP-43 gene polymorphism and polycystic ovary syndrome in Chilean women. Clin Chim Acta. 2008;398:5-9.
Kang ES, Kim HJ, Nam M, Nam CM, Ahn CW, Cha BS, et al. A novel 111/121 diplotype in the Calpain-10 gene is associated with type 2 diabetes. J Hum Genet. 2006;51:629-33.
Villuendas G, Escobar-Morreale HF, Tosi F, Sancho J, Moghetti P, San Millán JL. Association between the D19S884 marker at the insulin receptor gene locus and polycystic ovary syndrome. Fertil Steril. 2003;79:219-20.
How to Cite
Downloads
Downloads
Published
Issue
Section
Article metrics | |
---|---|
Abstract views | |
Galley vies | |
PDF Views | |
HTML views | |
Other views |