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Study in 1790 Baltic men: FSHR Asn680Ser polymorphism affects total testes volume
M Grigorova1, M Punab, O Poolamets
1Human Molecular Genetics Research Group, Institute of Molecular and Cell Biology, University of Tartu, Tartu, Estonia.
Andrology
|February 16, 2013
Summary
The FSHR Asn680Ser gene variant is linked to smaller testes volume in Baltic men. This finding suggests a functional impact of FSHR variants on male reproductive health and hormone levels.
Area of Science:
- Reproductive Endocrinology
- Human Genetics
- Male Fertility Research
Background:
- The Follicle-Stimulating Hormone Receptor (FSHR) gene has known polymorphisms, including Asn680Ser (rs6166), affecting female reproductive function.
- The impact of FSHR polymorphisms on male fertility and reproductive parameters remains incompletely understood.
- Previous studies on FSHR and male reproductive health have yielded inconclusive results.
Purpose of the Study:
- To investigate the association between the FSHR Asn680Ser polymorphism and male reproductive parameters in a large Baltic population.
- To analyze the relationship between FSHR genotype and reproductive hormone levels (FSH, Inhibin B, testosterone, LH, estradiol) and testicular volume in men.
Main Methods:
- Genotyping of the FSHR Asn680Ser polymorphism using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Study included a population-based cohort of Baltic men (n=1052) and Estonian idiopathic infertile patients (n=738).
- Genetic associations were tested using linear regression, and results were combined via meta-analysis.
Main Results:
- No significant difference in allelic distribution of FSHR Asn680Ser was found between the general cohort and the infertile group.
- A significant association was observed between the FSHR Ser680 allele and reduced total testes volume in both cohorts (p=0.010 and p=0.007, respectively).
- Meta-analysis confirmed the association with smaller testes volume (p=0.000066) and suggested links to higher serum FSH, lower Inhibin B, and lower total testosterone.
Conclusions:
- The FSHR Asn680Ser polymorphism is significantly associated with total testes volume in Baltic men.
- Supportive evidence indicates a functional role for FSHR variants in male reproductive physiology, influencing hormone levels.
- Further research is warranted to fully elucidate the impact of FSHR polymorphisms on male reproductive health.
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