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. 2015 Jun;32(6):991-7.
doi: 10.1007/s10815-015-0477-3. Epub 2015 May 3.

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

Carla Regina Schmitz  1 , Carlos Augusto Bastos de Souza, Vanessa Krebs Genro, Ursula Matte, Emily de Conto, João Sabino Cunha-Filho
Affiliations

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

Carla Regina Schmitz et al. J Assist Reprod Genet. 2015 Jun.

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.

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Figures

Fig. 1
Fig. 1
LH (a), FSH receptor (b) and LH receptor polymorphisms (c) frequencies in women with infertility and endometriosis (study group) and healthy fertile women (control group). V-LH = LH polymorphism Trp8Arg and Ile15Thr; Wild LH = LH with no polymorphism; FSH receptor variants: SS = 680Ser/Ser, NS = 680Asn/Ser and NN = 680Asn/Asn; insLQ = LH receptor with polymorphic insertion in exon 1; Wild LHR = LH receptor with no polymorphic insertion
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