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The wild-type allele G was found in 86.4% and the polymorphic allele T in 13.6% of the women respectively. Women carrying the GT genotype had a poorer response more frequently to controlled ovarian hyperstimulation when compared to individuals with the GG genotype, higher LH levels, lower AFC), oocytes retrieved and embryos.
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We propose that like in men, also in women the FSHB -211 G>T represents a key genetic modulator of circulating gonadotropin, leading to various possible downstream effects on reproductive physiology.
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High follicle stimulating hormone expression is associated with Turner syndrome.
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We found a genetic association between rs11031006 (FSHB) SNP and endometriosis. WNT4 and VEZT genes constitute the most consistently associated genes with endometriosis. In the present study, an association of rs7521902 (WNT4) and rs10859871 (VEZT) was confirmed in women with endometriosis at the genotypic but not the allelic level.
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the in vivo bioactivities of FSH glycoforms in Fshb null mice using a pharmacological rescue approach, was investigated.
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Genetic variation affecting FSH production (FSHB c.-211G>T) was associated with age at pubertal onset, as assessed by testicular enlargement. The effect appeared further modified by coexistence of genetic variation affecting FSH sensitivity (FSHR c.-29G>A).
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A novel homozygous mutation in the FSHbeta gene (c.343C > T) identified in a male patient with isolated FSH deficiency and infertility.
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Association of the FSHB 211G > T polymorphism with male infertility in Han-Chinese
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Genetic variations of FSH signaling appear to determine the individual set point of the hypothalamic-pituitary-gonadal axis already early in life.
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Modeling and high-throughput experimental data uncover the mechanisms underlying Fshb gene sensitivity to gonadotropin-releasing hormone pulse frequency
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Variants in FSHB gene are associated with polycystic ovary syndrome and LH levels in Han Chinese women.
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Data indicate that compared with normal eggs, oocytes with a brown zona pellucida (ZP) were found to have a higher ZP thickness (ZPT), lower embryo quality and lower pregnancy rate, which might be due to a high gonadotropin (Gn) dosage injection and high serum follicle stimulating hormone (FSH) levels.
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genetic association studies in peripubertal girls in Denmark: Data suggest that an SNP in FSHR (follicle stimulating hormone receptor, c.2039A>G) is associated with blood levels of FSH, LH, and estradiol; minor alleles in FSHB (follicle stimulating hormone beta subunit, c.-211G>T) and FSHR (c.-29G>A) are associated with delayed pubertal onset.
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The FSHB -211G>T variant attenuates serum FSH levels in the supraphysiological gonadotropin setting of Klinefelter syndrome
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3 known FSH-action modulating SNPs (FSHB -211G/T; FSHR -29G/A, c.2039 A/G)explained together 2.3%, 1.4%, 1.0 and 1.1% of the measured variance in serum FSH, Inhibin B, testosterone and total testes volume, respectively.
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The combined effect of FSHB GG+FSHR AA may potentiate the FSH pathway, which increases serum levels of FSH and reduces antimullerian hormone in health girls.
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Serum FSH levels are affected by the combination of genetic polymorphisms in FSHR and FSHB
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Data suggest that low serum FSH levels in men with an SNP in promoter region of FSHB (-211G/T) result from reduced binding of LHX3 (LIM homeobox 3) to FSHB promoter/response element and down-regulation of FSHB transcription in gonadotrophs.
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activin-regulated transcription mediated by forkhead box L2 [review]
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Data indicate that neither serum inhibin B nor follicle-stimulating hormone (FSH) is a suitable surrogate for determination of sperm concentration in a semen sample.
