Pharmacogenetics of Follicle-stimulating Hormone Action

Overview

Journal Curr Opin Endocrinol Diabetes Obes

Specialty Endocrinology

Date 2012 Apr 14

PMID 22499219

Citations 17

Authors

Maris Laan

Marina Grigorova

Ilpo T Huhtaniemi

Affiliations

Soon will be listed here.

Abstract

Purpose Of Review: To review the current knowledge of genetic variants in the two genes affecting the individual responsiveness to follicle-stimulating hormone (FSH) action-the FSH beta-subunit (FSHB) and the FSH receptor (FSHR), as well as the pharmacogenetic ramifications of the findings.

Recent Findings: Four common variants in the FSHB and the FSHR genes were shown to exhibit significant effect on FSH action: linked FSHR variants Thr307Ala and Asn680Ser determining common receptor isoforms, and gene expression affecting polymorphisms FSHR -29G/A and FSHB -211G/T. In women, the FSHR Thr307Ala/Asn680Ser polymorphisms show consistent predictive value for estimating the most optimal recombinant FSH dosage in controlled ovarian hyperstimulation (COH). The same variants exhibit a potential for the pharmacogenetic assessment of the treatment of polycystic ovarian syndrome. The FSHR -29G/A variant was also shown to contribute to ovarian response to COH. Pilot studies have suggested the FSHB -211 TT homozygous oligozoospermic men with genetically determined low concentration of FSH, as potentially the best responders to FSH treatment; furthermore, modulation of this response by FSHR polymorphisms is possible.

Summary: Genetic variants in FSHB and FSHR exhibit a potential for pharmacogenetic applications in selecting appropriate treatment options (timing and dosage) in male and female conditions requiring or benefiting from FSH therapy.

Citing Articles

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Does Follicle-Stimulating Hormone Receptor Polymorphism Status Affect Fertilization-Intracytoplasmic Sperm Injection Results and Live Birth Rate? A Retrospective Study.

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Variants Ala307Ala and Ser680Ser of 307 and 680 FSHr polymorphisms negatively influence on assisted reproductive techniques outcome and determine high probability of non-pregnancy in Caucasian patients.

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PMID: 34346002 PMC: 8581085. DOI: 10.1007/s10815-021-02276-0.

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