Impact of follicle stimulating hormone receptor variants in fertility

Lalioti, Maria D.

doi:10.1097/gco.0b013e3283455288

Cited by 36 publications

(33 citation statements)

References 92 publications

(72 reference statements)

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There is, however, a plethora of studies analyzing retrospectively the relevance of FSHR and other gene polymorphisms for ovarian response (variably defined) in ART programs based on different types of patients. To mention only the most recent ones, some studies confirm the impact of the FSHR c.2039AOG SNP (40), some do not (49) and this reflects faithfully the results of over a decade of literature summarized in recent reviews (12,13,14,15,16,17,50). The heterogeneity of the study designs, patient characteristics, and primary end points, often in the absence of power analysis, together with relatively advanced age of women in ART programs are the possible reasons for this inconsistency (Supplementary Table 1).…”

Section: Pharmacogenetic Studiesmentioning

confidence: 93%

“…However, controversies exist concerning the impact of genetic polymorphisms of these genes on gonadotropin treatment and some contradictory findings have been published. Several good reviews appeared recently in the literature summarizing the current knowledge, covering various aspects of this topic (12,13,14,15,16,17), and showing clearly that, currently, there is not enough evidence to provide practical clinical recommendations for the pharmacogenetic use of FSH.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

MECHANISMS IN ENDOCRINOLOGY: Genetics of FSH action: a 2014-and-beyond view

Simoni

Casarini

2014

European Journal of Endocrinology

123

View full text Add to dashboard Cite

Objective: To assess the pharmacogenetic potential of FSH for infertility treatment. Design: Review of the literature and genomic databases. Methods: Single-nucleotide polymorphism (SNP) assessed: rs6166 (c.2039AOG, p.N680S), rs6165 (c.919AOG, p.T307A), rs1394205 (c.K29GOA) in FSHR, and rs10835638 (c.K211GOT) in FSHB. Literature search via PubMed. Blast analysis of genomic information available in the NCBI nucleotide database. Comparison of allele frequency and haplotype distribution using the http://spsmart.cesga.estool. Results: All these SNPs appear first in Homo, result in reduced FSH action, and are present with variable frequencies and combinations worldwide. Stringent clinical studies demonstrate that the FSHR genotype influences serum FSH levels and gonadal response in both sexes. Serum FSH levels depend on the K211GOT SNP, influencing transcriptional activity of the FSHB promoter. Genotypes reducing FSH action are overrepresented in infertile subjects. Conclusions: Although the clinical relevance of the FSHR polymorphisms alone is limited, the combination of FSHR and FSHB genotypes has a much stronger impact than either one alone in both sexes. About 20% of people are carriers of the alleles associated with lower serum FSH levels/reduced FSHR expression or activity, possibly less favorable for reproduction. Prospective studies need to investigate whether stratification of infertile patients according to their FSHR-FSHB genotypes improves clinical efficacy of FSH treatment compared with the current, naïve approach. A relative enrichment of less favorable FSHR-FSHB genotypes may be related to changes in human reproductive strategies and be a marker of some health-related advantage at the cost of reduced fertility.

show abstract

Section: Pharmacogenetic Studiesmentioning

confidence: 93%

Section: Introductionmentioning

confidence: 99%

MECHANISMS IN ENDOCRINOLOGY: Genetics of FSH action: a 2014-and-beyond view

Simoni

Casarini

2014

European Journal of Endocrinology

123

View full text Add to dashboard Cite

show abstract

“…These differences may be explained by the distribution of 307 and 680 FSHR SNPs, which have a great variability, when they are compared in different populations and even in populations that are considered to be similar of the genetic background, they show different frequencies [39]. About the Asn680Ser, Jun et al [23] it was realized that women who are Ser680Ser, showed lower estradiol levels and fewer captured oocytes than other genotypes.…”

Section: Discussionmentioning

confidence: 99%

Ala307Thr and Asn680Ser Polymorphisms ofFSHRGene in Human Reproduction Outcomes

Trevisan¹,

Peluso²,

Cordts³

et al. 2014

Cell Physiol Biochem

View full text Add to dashboard Cite

Background/Aims: It is known that some markers of ovarian stimulation can help to personalize the treatment, adjusting the dose of exogenous rFSH, thus preventing excessive wear of the patient. We aimed to evaluate Ala307Thr and Asn680Ser genotypes of the FSHR gene in infertile women and correlate the findings with the results of ovarian response and assisted reproduction outcomes. Methods: Cross-sectional study covering 149 infertile women submitted to assisted reproduction treatment. Genotyping of FSHR variants were performed using TaqMan methodology by real time PCR. FSH and estradiol were measured by ELFA. The data was analyzed statistically. Results: The frequencies of the FSHR Ala307Thr and Asn680Ser genotypes considering the ovarian hyper stimulation response also did not differ statistically. Considering assisted reproduction outcomes, we observed that the polymorphism Ala307Thr have a statistical difference for the number of MII oocytes and embryos (p=0,051 and p=0.037, respectively), which the genotype Ala/Ala showed more embryos. The polymorphisms did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment. Conclusions: The polymorphisms Ala307Thr and Asn680Ser did not determine the FSH and estradiol serum levels and the ovarian response in the assisted reproduction treatment. However, we observed that the Ala307Thr may influence the number of embryos produced.

show abstract

“…One of these genes, follicle stimulating hormone receptor (FSHR), showed association with preterm birth in case/control cohorts of mothers of Finnish and African-American ancestry. Variants in FSHR have been linked to female infertility (Lalioti 2011), a known risk factor for preterm birth. Suggested function in the uterus and cervix and an influence on PR isoform abundance in mice (Danilovich et al 2002), provide further www.perspectivesinmedicine.org possibilities for its potential involvement in normal birth timing and preterm birth risk.…”

Section: Selective Pressures and Adaptive Evolution In Human Pregnancmentioning

confidence: 99%

Genomics of Preterm Birth

Swaggart

Pavličev

Muglia

2015

Cold Spring Harbor Perspectives in Medicine

View full text Add to dashboard Cite

The molecular mechanisms controlling human birth timing at term, or resulting in preterm birth, have been the focus of considerable investigation, but limited insights have been gained over the past 50 years. In part, these processes have remained elusive because of divergence in reproductive strategies and physiology shown by model organisms, making extrapolation to humans uncertain. Here, we summarize the evolution of progesterone signaling and variation in pregnancy maintenance and termination. We use this comparative physiology to support the hypothesis that selective pressure on genomic loci involved in the timing of parturition have shaped human birth timing, and that these loci can be identified with comparative genomic strategies. Previous limitations imposed by divergence of mechanisms provide an important new opportunity to elucidate fundamental pathways of parturition control through increasing availability of sequenced genomes and associated reproductive physiology characteristics across diverse organisms.

show abstract

Impact of follicle stimulating hormone receptor variants in fertility

Cited by 36 publications

References 92 publications

MECHANISMS IN ENDOCRINOLOGY: Genetics of FSH action: a 2014-and-beyond view

MECHANISMS IN ENDOCRINOLOGY: Genetics of FSH action: a 2014-and-beyond view

Ala307Thr and Asn680Ser Polymorphisms ofFSHRGene in Human Reproduction Outcomes

Genomics of Preterm Birth

Contact Info

Product

Resources

About