Emily De Conto1,2, Úrsula Matte3, João Paolo Bilibio4, Vanessa Krebs Genro3, Carlos Augusto Souza3, Delva Pereira Leão4, João Sabino Cunha-Filho4. 1. UFRGS - Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama, 110, Porto Alegre, RS, CEP 90.040-060, Brazil. emilydconto@gmail.com. 2. HCPA - Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2.350, Porto Alegre, RS, CEP 90.035-903, Brazil. emilydconto@gmail.com. 3. HCPA - Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2.350, Porto Alegre, RS, CEP 90.035-903, Brazil. 4. UFRGS - Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama, 110, Porto Alegre, RS, CEP 90.040-060, Brazil.
Abstract
PURPOSE: The purpose of this paper is to determine whether there is a correlation between polymorphisms in the growth differentiation factor-9 (GDF-9) gene and anti-Müllerian hormone (AMH) gene and its receptor, AMHR2, and endometriosis-associated infertility. METHODS: This is a case-control study to evaluate whether there is a correlation between polymorphisms in the GDF-9 gene (SNPs determined by direct sequencing), AMH gene, AMHR2 (both SNPs determined by genotyping using TaqMan Allelic Discrimination), and endometriosis-associated infertility. The study included 74 infertile women with endometriosis and 70 fertile women (tubal ligation) as a control group. RESULTS: Patient age and the mean FSH levels were similar between the infertile with endometriosis and fertile without endometriosis groups. The frequency of genotypes between the groups for GDF-9 gene polymorphisms did not show statistical significance, nor did the AMHR2 gene polymorphism. However, the AMH gene polymorphism did show statistical significance, relating the polymorphic allele with infertility in endometriosis. CONCLUSIONS: We demonstrate that an SNP in the AMH gene is associated with infertility in endometriosis, whereas several SNPs in the GDF-9 gene and the - 482A G SNP in the AMHR2 gene were found to be unrelated.
PURPOSE: The purpose of this paper is to determine whether there is a correlation between polymorphisms in the growth differentiation factor-9 (GDF-9) gene and anti-Müllerian hormone (AMH) gene and its receptor, AMHR2, and endometriosis-associated infertility. METHODS: This is a case-control study to evaluate whether there is a correlation between polymorphisms in the GDF-9 gene (SNPs determined by direct sequencing), AMH gene, AMHR2 (both SNPs determined by genotyping using TaqMan Allelic Discrimination), and endometriosis-associated infertility. The study included 74 infertile women with endometriosis and 70 fertile women (tubal ligation) as a control group. RESULTS:Patient age and the mean FSH levels were similar between the infertile with endometriosis and fertile without endometriosis groups. The frequency of genotypes between the groups for GDF-9 gene polymorphisms did not show statistical significance, nor did the AMHR2 gene polymorphism. However, the AMH gene polymorphism did show statistical significance, relating the polymorphic allele with infertility in endometriosis. CONCLUSIONS: We demonstrate that an SNP in the AMH gene is associated with infertility in endometriosis, whereas several SNPs in the GDF-9 gene and the - 482A G SNP in the AMHR2 gene were found to be unrelated.
Authors: Marlies E Kevenaar; Axel P N Themmen; Joop S E Laven; Barbara Sonntag; Sharon Lie Fong; André G Uitterlinden; Frank H de Jong; Huibert A P Pols; Manuela Simoni; Jenny A Visser Journal: Hum Reprod Date: 2007-03-02 Impact factor: 6.918
Authors: Marlies E Kevenaar; Axel P N Themmen; Fernando Rivadeneira; André G Uitterlinden; Joop S E Laven; Natasja M van Schoor; Paul Lips; Huibert A P Pols; Jenny A Visser Journal: Hum Reprod Date: 2007-07-18 Impact factor: 6.918
Authors: Blair R McCallie; Mary Haywood; Michelle M Denomme; Rachel Makloski; Jason C Parks; Darren K Griffin; William B Schoolcraft; Mandy G Katz-Jaffe Journal: J Assist Reprod Genet Date: 2021-03-30 Impact factor: 3.357