Genetics of gonadotropins and their receptors as markers of ovarian reserve and response in controlled ovarian stimulation

Riccetti, Laura; Pascali, Francesco De; Gilioli, Lisa; Santi, Daniele; Brigante, Giulia; Simoni, Manuela; Casarini, Livio

doi:10.1016/j.bpobgyn.2017.04.002

Cited by 29 publications

(34 citation statements)

References 84 publications

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“…FSH and FSHR might affect controlled ovarian stimulation in ART and consequently assisted reproduction outcome 43,44 . Combination of FSHR genotype and other risk factors may provide a mean of predicting ovarian response to FSH or chance of pregnancy before in vitro fertilization procedures are initiated 45,46 . Variant rs2300441 identified in this study could be a potential marker for ovarian response and reproduction outcome in ARTs.…”

Section: Resultsmentioning

confidence: 86%

A genome‐wide association study identifies FSHR rs2300441 associated with follicle‐stimulating hormone levels

et al. 2020

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Follicle-stimulating hormone (FSH) and luteinizing hormone (LH) play critical roles in female reproduction, while the underlying genetic basis is poorly understood. Genome-wide association studies (GWASs) of FSH and LH levels were conducted in 2590 Chinese females including 1882 polycystic ovary syndrome (PCOS) cases and 708 controls. GWAS for FSH level identified multiple variants at FSHR showing genome-wide significance with the top variant (rs2300441) located in the intron of FSHR. The A allele of rs2300441 led to a reduced level of FSH in the PCOS group (β = −.43, P = 6.70 × 10 −14 ) as well as in the control group (β = −.35, P = 6.52 × 10 −4 ). In the combined sample, this association was enhanced after adjusting for the PCOS status (before: β = −.38, P = 1.77 × 10 −13 ; after: β = −.42, P = 3.33 × 10 −16 ), suggesting the genetic effect is independent of the PCOS status.The rs2300441 explained sevenfold higher proportion of the FSH variance than the total variance explained by the two previously reported FSHR missense variants (rs2300441 R 2 = 1.40% vs rs6166 R 2 = 0.17%, rs6165 R 2 = 0.03%). GWAS for LH did not identify any genome-wide significant associations. In conclusion, we identified genome-wide significant association between variants in FSHR and circulating FSH first, with the top associated variant rs2300441 might be a primary contributor at the population level.

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Section: Resultsmentioning

confidence: 86%

A genome‐wide association study identifies FSHR rs2300441 associated with follicle‐stimulating hormone levels

et al. 2020

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“…Tumor biomarkers are the molecular indicators found in blood, other body fluids, or on tissues that can be interrogated to evaluate disease status and pharmacologic responses to therapeutic interventions. Biomarkers include RNAs (Capula et al 2019 ; Funamizu et al 2019 ), hormones (Costante and Meringolo 2020 ; Riccetti et al 2017 ), as well as different functional subgroups of proteins such as enzymes (Miao et al 2013 ), glycoproteins (Luo et al 2018 ), oncofetal antigens (Feng et al 2017 ) and receptors. Selected targeting peptides are currently used as biomarkers for some cancers with high incidence (Luna Coronell et al 2012 ).…”

Section: Potential Applications Of Targeting Peptidesmentioning

confidence: 99%

Application of Phage-Displayed Peptides in Tumor Imaging Diagnosis and Targeting Therapy

Xü

et al. 2020

Int J Pept Res Ther

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Phage display is an effective and powerful technique that provides a route to discovery unique peptides targeting to tumor cells. Specifically binding peptides are considered as the valuable target directing molecule fragments with potential efficiency to improve the current tumor clinic, and offer new approaches for tumor prevention, diagnosis and treatment. We focus on the recent advances in the isolation of tumor-targeting peptides by biopanning methods, with particular emphasis on molecular imaging, and pharmaceutical targeting therapy.

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“…The receptor binds FSH, a glycoprotein that is largely responsible for folliculogenesis and recruitment of a dominant follicle prior to ovulation. Most studies to date investigating an association between FSHR polymorphisms and DOR have focused on three loci on exon 10: 680, 307, and 189 (124). Women carrying the Ser homozygous variant at the 680 locus have been seen to have higher basal FSH than heterozygous or Asn homozygous women and require higher doses of FSH during COH (125,126).…”

Section: Single-nucleotide Polymorphismsmentioning

confidence: 99%

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

Nesbit

Jia

Singh³

et al. 2020

F&S Reviews

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Objective: To provide an update on single-gene mutations identified as causative for pathologic diminished ovarian reserve (DOR) to inform clinical screening recommendations. Evidence Review: A systematic review of the literature was performed in accordance with PRISMA guidelines using PubMed and EM-BASE databases. Only full-text articles in English were included and articles were excluded that did not relate to single-gene causes of pathologic DOR in humans. The search was supplemented using references of the included articles. Primary outcomes included prevalence ratios (PRs) for 12 genes associated with pathologic DOR. Result(s): A total of 550 articles were screened, with 108 articles included for review. Fifteen observational studies had prevalence data available for quantitative analysis. Elevated prevalence ratios were found in women with DOR for the FMR1 premutation and FMR2 mutations as well as single-nucleotide polymorphisms in the BMP15, GDF9, FSHR, and NOBOX genes. Although some studies have suggested an increased prevalence of BRCA1 and BRCA2 mutations in women with DOR, the prevalence in the controls in the included studies was elevated and PRs did not achieve statistical significance. Conclusion(s): Women diagnosed with DOR are at an increased risk of carrying mutations in FMR1, FMR2, and variants in BMP15, GDF9, FSHR, and NOBOX genes. Of these, the only gene identified as having the potential to cause significant deleterious effects in offspring is the FMR1 premutation, which supports current national screening guidelines. Further studies of BRCA1 and BRCA2 are needed to determine whether pathologic DOR might be associated with mutations in those genes.

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Genetics of gonadotropins and their receptors as markers of ovarian reserve and response in controlled ovarian stimulation

Cited by 29 publications

References 84 publications

A genome‐wide association study identifies FSHR rs2300441 associated with follicle‐stimulating hormone levels

A genome‐wide association study identifies FSHR rs2300441 associated with follicle‐stimulating hormone levels

Application of Phage-Displayed Peptides in Tumor Imaging Diagnosis and Targeting Therapy

New perspectives on the genetic causes of diminished ovarian reserve and opportunities for genetic screening: systematic review and meta-analysis

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