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

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The study found a significantly higher prevalence of the LHR insLQ polymorphism in women with endometriosis and infertility compared to fertile controls, while LH and FSHR polymorphisms showed no difference.

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This prospective case–control study compared 67 women with laparoscopically confirmed endometriosis and infertility to 65 healthy fertile controls, collecting day-3 serum LH, FSH, estradiol, and CA-125 and genotyping LH (Trp8Arg and Ile15Thr), LH receptor (insLQ), and FSH receptor (Asn680Ser) variants by PCR. Day-3 FSH, estradiol, and LH levels did not differ between groups, while CA-125 was higher in the endometriosis/infertility group. All polymorphisms were in Hardy-Weinberg equilibrium; the insLQ prevalence and allele occurrence were significantly higher in endometriosis/infertility, whereas Trp8Arg/Ile15Thr and Asn680Ser showed no prevalence differences. The key limitation is that the study assessed only selected genetic variants and hormone levels on a single day (day-3), within a relatively small sample size. This paper is centrally about endometriosis — it tests whether specific LH/LHR and FSHR polymorphisms (especially LHR insLQ) are associated with endometriosis-related infertility.

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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. Similar content being viewed by others

References

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Maiorana A, Cicerone C, Niceta M, Alio L. Evaluation of serum CA 125 levels in patients with pelvic pain related to endometriosis. Int J Biol Markers. 2007;22(3):200–2. 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. Author information Authors and Affiliations Corresponding author Additional information Capsule The presence of insLQ polymorphism is higher in patients with endometriosis and infertility than in healthy fertile patients. Electronic supplementary material Below is the link to the electronic supplementary material. Supplemental Figure 1 (download DOC ) (DOC 216 kb) Rights and permissions About this article Cite this article Schmitz, C.R., de Souza, C.A.B., Genro, V.K. et al. LH (Trp8Arg/Ile15Thr), LHR (insLQ) and FSHR (Asn680Ser) polymorphisms genotypic prevalence in women with endometriosis and infertility. J Assist Reprod Genet 32, 991–997 (2015). https://doi.org/10.1007/s10815-015-0477-3 Received: Accepted: Published: Issue date: DOI: https://doi.org/10.1007/s10815-015-0477-3

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Condition tags

mesh:D004715endometriosisinfertility

MeSH descriptors

Endometriosis Infertility, Female Luteinizing Hormone Polymorphism, Genetic Receptors, FSH Receptors, LH Adult Case-Control Studies Endometriosis Endometriosis Female Humans Infertility, Female Infertility, Female Luteinizing Hormone Luteinizing Hormone Multivariate Analysis Prospective Studies Receptors, FSH Receptors, FSH

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