ArticleEndocrinology2013
A human FSHB promoter SNP associated with low FSH levels in men impairs LHX3 binding and basal FSHB transcription.
Article in Endocrinology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Pharmacogenetics of FSH Action in the Male.Frontiers in endocrinology · 2019Pooled it
- Injectable contraceptives differentially affect the hypothalamic-pituitary-gonadal axis and amenorrhea incidence†.Biology of reproduction · 2026Trial
- Review
- FSH Therapy in Male Factor Infertility: Evidence and Factors Which Might Predict the Response.Life (Basel, Switzerland) · 2024Review
- Implication of FSHB rs10835638 variant in endometriosis in Brazilian women.Einstein (Sao Paulo, Brazil) · 2023Article
- A GWAS in Idiopathic/Unexplained Infertile Men Detects a Genomic Region Determining Follicle-Stimulating Hormone Levels.The Journal of clinical endocrinology and metabolism · 2022Article
- Genetic and Epigenetic Control of Puberty.Sexual development : genetics, molecular biology, evolution, endocrinology, embryology, and pathology of sex determination and differentiation · 2022Review
- Advances in the Regulation of Mammalian Follicle-Stimulating Hormone Secretion.Animals : an open access journal from MDPI · 2021Review
- FSHB Transcription is Regulated by a Novel 5' Distal Enhancer With a Fertility-Associated Single Nucleotide Polymorphism.Endocrinology · 2021Article
- FSHB Genotype Identified as a Relevant Diagnostic Parameter Revealed by Cluster Analysis of Men With Idiopathic Infertility.Frontiers in endocrinology · 2021Article
- FSH for the Treatment of Male Infertility.International journal of molecular sciences · 2020Review
- Regulation of FSH expression by differentially expressed miR-186-5p in rat anterior adenohypophyseal cells.PloS one · 2018Article
- Roles of differential expression of microRNA-21-3p and microRNA-433 in FSH regulation in rat anterior pituitary cells.Oncotarget · 2017Article
- Impact of the FSHB gene -211G/T polymorphism on male gonadal function.Journal of assisted reproduction and genetics · 2017Article
- Genetic evidence that lower circulating FSH levels lengthen menstrual cycle, increase age at menopause and impact female reproductive health.Human reproduction (Oxford, England) · 2016Article
- Genome-wide association study with 1000 genomes imputation identifies signals for nine sex hormone-related phenotypes.European journal of human genetics : EJHG · 2016Article
- The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome.European journal of human genetics : EJHG · 2015Article
- Roles of binding elements, FOXL2 domains, and interactions with cJUN and SMADs in regulation of FSHβ.Molecular endocrinology (Baltimore, Md.) · 2014Article
- Pubertal onset in girls is strongly influenced by genetic variation affecting FSH action.Scientific reports · 2014Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
FSH production is important for human gametogenesis. In addition to inactivating mutations in the FSHB gene, which result in infertility in both sexes, a G/T single-nucleotide polymorphism (SNP) at -211 relative to the transcription start site of the 5' untranslated region of FSHB has been reported to be associated with reduced serum FSH levels in men. In this study, we sought to identify the potential mechanism by which the -211 SNP reduces FSH levels. Although the SNP resides in a putative hormone response element, we showed that, unlike the murine gene, human FSHB was not induced by androgens or progestins in gonadotropes. On the other hand, we found that the LHX3 homeodomain transcription factor bound to an 11-bp element in the human FSHB promoter that includes the -211 nucleotide. Furthermore, we also demonstrated that LHX3 bound with greater affinity to the wild-type human FSHB promoter compared with the -211 G/T mutation and that LHX3 binding was more effectively competed with excess wild-type oligonucleotide than with the SNP. Finally, we showed that FSHB transcription was decreased in gonadotrope cells with the -211 G/T mutation compared with the wild-type FSHB promoter. Altogether, our results suggest that decreased serum FSH levels in men with the SNP likely result from reduced LHX3 binding and induction of FSHB transcription.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.