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CORRELATIONS BETWEEN POLYMORPHISMS OF ESTROGEN 1, VITAMIN D RECEPTORS AND HORMONAL PROFILE IN INFERTILE MEN
S Vladoiu1, D Dinu Draganescu1, A Botezatu2
1"C.I.Parhon" Institute of Endocrinology, Bucharest, Romania.
Specific genetic variants in estrogen receptor alpha (ESR1) and vitamin D receptor (VDR) genes correlate with male infertility. These gene variations may jointly influence human spermatogenesis and hormonal status in infertile patients.
Area of Science:
- Genetics
- Reproductive Endocrinology
- Molecular Biology
Background:
- Estrogen receptor alpha (ESR1) and vitamin D receptor (VDR) gene polymorphisms are frequently studied for male infertility links.
- Previous studies show controversial results regarding these genetic correlations.
Purpose of the Study:
- To investigate correlations between ESR1 and VDR genotypes, hormonal markers, and semen quality in infertile men.
- To provide new data for a better understanding of the genetic factors contributing to male infertility.
Main Methods:
- Genotyping of ESR1 (XbaI, PvuII) and VDR (FokI, BsmI, ApaI, TaqI) polymorphisms using PCR-RFLP.
- Analysis of hormonal markers and semen parameters in 42 infertile men and 28 controls.
Main Results:
- A significant association was found between the PvuII polymorphism and infertility.
- The BsmI (A>G) and ApaI (G>T) polymorphisms showed significant differences between infertile and control groups.
- Specific genotypes (BsmI GG, ApaI AA) correlated with altered prolactin, DHEA, and SHBG levels.
Conclusions:
- Multivariate analysis revealed a cumulative effect of specific ESR1 and VDR genetic variants on hormonal status in infertile patients.
- These genetic variants may jointly influence human spermatogenesis, contributing to male infertility.
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