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Endometriosis-associated infertility: GDF-9, AMH, and AMHR2 genes polymorphisms

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

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.

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Acknowledgments

This 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).

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Authors and Affiliations

  1. UFRGS – Universidade Federal do Rio Grande do Sul, Avenida Paulo Gama, 110, Porto Alegre, RS, CEP 90.040-060, Brazil

    Emily De Conto, João Paolo Bilibio, Delva Pereira Leão & João Sabino Cunha-Filho

  2. HCPA – Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos, 2.350, Porto Alegre, RS, CEP 90.035-903, Brazil

    Emily De Conto, Úrsula Matte, Vanessa Krebs Genro & Carlos Augusto Souza

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  1. Emily De Conto
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  2. Úrsula Matte
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  3. João Paolo Bilibio
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  4. Vanessa Krebs Genro
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  5. Carlos Augusto Souza
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  6. Delva Pereira Leão
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  7. João Sabino Cunha-Filho
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Corresponding author

Correspondence to Emily De Conto.

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This study was approved by the Ethics Committee of HCPA under project number 11-0075.

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De 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

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  • DOI: https://doi.org/10.1007/s10815-017-1026-z

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