Abstract

BackgroundSingle nucleotide polymorphism of the follicle-stimulating hormone (FSH) receptor (FSHR) is an important marker of ovarian function. However, its role in female fecundity remains debatable. The aim of the study to assess the relationship of FSHR polymorphism of Serine/Serine, Asparagine/Asparagine and Asparagine/Serine variants directly against the time-to-pregnancy (TTP) in women.MethodsData were collected from 291 consecutive selected post-partum Caucasians using this criterion: ethnicity, age between 21 and 34-year-old new mothers and, 0–3 days after delivery of newborns in the Klaipeda University Hospital, Lithuania. Questionnaires on factors associated with conception were given to patients, and blood samples were collected for genomic DNA extractions as well as for analysis of follicle-stimulating hormone receptor gene polymorphism. Odds ratios (OR) and 95% confidence intervals (CI) for time-to-pregnancy were estimated by multivariate logistic regression. Women with unplanned pregnancies and those who received assisted reproductive technologies were not included in the study.ResultsAfter adjustment for other possible factors, increased risk for time-to-pregnancy of 12 or more months was associated with: Serine/Serine polymorphism variant (OR = 1.38, 95% CI 1.56–2.71, p = 0.007), age of 30 or more years (OR = 1.95, 95% CI 1.25–2.71, p = 0.015), gynaecological diseases in the past (OR = 2.21, 95% CI 1.12–5.74, p = 0.027), prior contraception use (OR = 1.87, 95% CI 1.14–3.64, p = 0.016), and fertility problems in the past (OR = 1.57, 95% CI 1.16–4.76, p = 0.019).ConclusionThe results suggest a possible relationship of FSH receptor gene Serine/Serine variant for the lower possibility of conception during the first 12 months of planned conception.

Highlights

  • Single nucleotide polymorphism of the follicle-stimulating hormone (FSH) receptor (FSHR) is an important marker of ovarian function

  • During FSH receptor genotype analysis three groups of Asn680 and Ser680 variation were detected: 101 (34.7%) of cases were found to be homozygous for Asn680 (Asn/ Asn -group), 148 (50.9%) heterozygous for Asn680 and Ser680 (Asn/Ser -group), and 42 (14.4%) homozygous for

  • This finding is important in infertility treatment; patients with the homozygous follicle-stimulating hormone receptor (FSHR) Ser680/Ser680 polymorphism have double the chance of having a resistance to clomiphene citrate [30]

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Summary

Introduction

Single nucleotide polymorphism of the follicle-stimulating hormone (FSH) receptor (FSHR) is an important marker of ovarian function. The aim of the study to assess the relationship of FSHR polymorphism of Serine/Serine, Asparagine/Asparagine and Asparagine/ Serine variants directly against the time-to-pregnancy (TTP) in women. Impaired fertility is inherited and may be due to inactivating mutations in the gonadotropin and gonadotropin receptor genes [7, 8]. Recent genetic studies have revealed that the pathogenesis of subfertility or infertility can be due to mutations in the follicle-stimulating hormone receptor (FSHR) gene [9]. FSHR inactivating mutations may cause primary or secondary amenorrhea, infertility, and premature ovarian failure [10]; whereas activating mutations can predispose to ovarian hyperstimulation syndrome, Zilaitiene et al BMC Pregnancy and Childbirth (2018) 18:272 as a consequence of exogenous FSH administration, or to a spontaneous onset [10,11,12]

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