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

ABSTRACT: 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.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.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.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.

SUBMITTER: De Conto E

PROVIDER: S-EPMC5714819 | biostudies-other | 2017 Dec

REPOSITORIES: biostudies-other

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

De Conto Emily E Matte Úrsula Ú Bilibio João Paolo JP Genro Vanessa Krebs VK Souza Carlos Augusto CA Leão Delva Pereira DP Cunha-Filho João Sabino JS

Journal of assisted reproduction and genetics 20170822 12

<h4>Purpose</h4>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.<h4>Methods</h4>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 ...[more]

PMID: 28831646

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Project description:The Fc receptor-like 3 (FCRL3) gene was reported to be linked to a variety of autoimmune diseases, including endometriosis-related infertility. However, this linkage has not been studied in Chinese population and there has been no meta-analysis on the interrelationship of FCRL3 gene and endometriosis-related infertility. The aim of the study was to investigate the association between FCRL3 genetic polymorphisms and the risk of endometriosis-related infertility in Han Chinese, and a further meta-analysis was conducted to confirm our results.Four single nucleotide polymorphisms (SNPs) (rs7528684 [FCRL3_3], rs11264799 [FCRL3_4], rs945635 [FCRL3_5], and rs3761959 [FCRL3_6]) on FCRL3 gene were genotyped in a case-control cohort composed of 217 patients suffering from endometriosis-related infertility and 220 healthy controls using cleaved amplification polymorphism sequence-tagged sites (polymerase chain reaction-restriction fragment length polymorphism, PCR-RFLP). Odds ratio (OR) and its 95% confidence interval (CI) was used to evaluate the association quantitatively. Furthermore, a meta-analysis of previous studies including the present study was implemented through Stata 11.0 (Stata Corporation, College Station, TX).We found an approximately 1.4-fold significantly increased frequency of the FCRL3_3 variant in women with endometriosis-related infertility over the controls (OR = 1.41 [95% CI = 1.08-1.84], P = 0.013). However, no significant difference was found between women with endometriosis-related infertility and controls for FCRL3_4, FCRL3_5, and FCRL3_6. Regardless of the symptoms and the revised classification of the American Society of Reproductive Medicine (rASRM) stage of endometriosis, there was a significant association between FCRL3_3 variant and an increased risk of endometriosis-related infertility. Meta-analysis of previous studies combined with the present study further confirmed the association between FCRL3_3 and the risk of endometriosis-related infertility.In summary, the present study suggested that FCRL3_3 variant was associated with an increased risk of endometriosis-related infertility, regardless of symptoms, and rASRM stage of the patients. Meta-analysis of previous studies combined with the present study further confirmed our results. Further large-scale studies in the future are warranted to explore the association between FCRL3 genetic polymorphisms and endometriosis-related infertility, as well as other human diseases, in Asian and other ethnicities.

Dataset Information

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

Publications

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

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