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LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility

  • Carla Regina Schmitz
  • Carlos Augusto Bastos de Souza
  • Vanessa Krebs Genro
  • Ursula Matte
  • Emily de Conto
  • João Sabino Cunha-Filho
Genetics

Abstract

Purpose

To verify if polymorphisms of LH (Trp8Arg/Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) are associated with endometriosis and infertility.

Methods

This is a prospective case–control study. Sixty-seven patients with endometriosis and infertility (study group) and 65 healthy fertile patients (control group) were enrolled in the study between July 2010 and July 2013. All patients had their endometriosis diagnosis made or excluded by laparoscopic surgery; study group was submitted to the surgery for infertility investigation and control group for tubal ligation. Day-3 serum hormones were collected from all patients. Analysis of nucleotide mutations for LH polymorphisms (Trp8Arg and Ile15Thr), LHR polymorphism (insLQ), and FSHR polymorphism (Asn680Ser) were performed by PCR.

Results

Day-3 FSH, estradiol and LH serum levels were not different between the groups, while CA-125 was higher in patients with endometriosis and infertility. All polymorphisms studied were in Hardy-Weinberg equilibrium. The prevalence of insLQ was significantly higher in patients with endometriosis and infertility (P = 0.005). Allele occurrence in control group was 0.10 versus 0.25 in infertile endometriosis group (P = 0.001). There was no difference regarding Trp8Arg/Ile15Thr (P > 0.05) and Asn680Ser (P > 0.05) prevalence between groups.

Conclusion

This is the first time that prevalence of insLQ was shown to be higher in patients with endometriosis and infertility than in healthy fertile patients. There was no difference in LH and FSHR polymorphisms’ prevalence between groups.

Keywords

Endometriosis Infertility Hormones Polymorphisms 

Notes

Acknowledgments

This study was supported by grants from the CNPq (Conselho Nacional de Desenvolvimento Científico e Tecnológico) and from the Fundo de Incentivo a Pesquisa (FIPE) of Hospital de Clínicas de Porto Alegre, RS – Brazil.

Supplementary material

10815_2015_477_MOESM1_ESM.doc (216 kb)
Supplemental Figure 1 (DOC 216 kb)

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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  • Carla Regina Schmitz
    • 1
  • Carlos Augusto Bastos de Souza
    • 2
  • Vanessa Krebs Genro
    • 2
  • Ursula Matte
    • 3
  • Emily de Conto
    • 1
    • 3
  • João Sabino Cunha-Filho
    • 1
    • 2
  1. 1.Postgraduate Program in Medical Clinics of the Universidade Federal do Rio Grande do SulPorto AlegreBrazil
  2. 2.Department of Obstetrics and GynecologyUniversidade Federal do Rio Grande do SulPorto AlegreBrazil
  3. 3.Terapia Genica Research UnitResearch Center of Hospital de Clinicas de Porto AlegrePorto AlegreBrazil

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