{"paper_id":"5212999b-7022-4287-981d-89979acea69a","body_text":"Abstract\nPurpose\nThe 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.\nMethods\nThis 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.\nResults\nPatient 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.\nConclusions\nWe 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.\nSimilar content being viewed by others\nReferences\nKovanci E, Rohozinski J, Simpson JL, Heard MJ, Bishop CE, Carson SA. Growth differentiating factor-9 mutations may be associated with premature ovarian failure. Fertil Steril. 2007;87:143–6.\nKnight PG, Glister C. TGF-beta superfamily members and ovarian follicle development. Reproduction. 2006;132:191–206.\nTrombly DJ, Woodruff TK, Mayo KE. Roles for transforming growth factor beta superfamily proteins in early folliculogenesis. 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J Ovarian Res. 2017 Jul 12;10(1):43.\nAcknowledgments\nThis work was performed with financial support from the Research Incentive Fund (Fundação de Incentivo a Pesquisas e Eventos—FIPE)—Clinical Hospital of Porto Alegre (Hospital de Clínicas de Porto Alegre—HCPA), the National Council for Scientific and Technological Development (Conselho Nacional de Desenvolvimento Científico e Tecnológico—CNPq), and the Coordination for the Improvement of Higher Education Personnel (Coordenação de Aperfeiçoamento de Pessoal de Nível Superior—CAPES).\nAuthor information\nAuthors and Affiliations\nCorresponding author\nEthics declarations\nThis study was approved by the Ethics Committee of HCPA under project number 11-0075.\nRights and permissions\nAbout this article\nCite this article\nDe Conto, E., Matte, Ú., Bilibio, J.P. et al. Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms. J Assist Reprod Genet 34, 1667–1672 (2017). https://doi.org/10.1007/s10815-017-1026-z\nReceived:\nAccepted:\nPublished:\nIssue date:\nDOI: https://doi.org/10.1007/s10815-017-1026-z","source_license":"CC0","license_restricted":false}