Analysis of genetic polymorphism 4a/b of the eNOS gene in infertile men
Miloš Lazić, , Đorđe Radisavčević
Institute of Human genetics, University of Belgrade School of Medicine, Germany

Aim: The aim of our study was the analysis of genetic polymorphism 4a/b of the eNOS gene in infertile men with idiopathic infertility, correlation of genotype and phenotype in infertile men and comparing the results of testing of genetic polymorphism 4a/b with the results from the control group.

Introduction: Male infertility of unknown etiology represents a common medical and social problem, in whose basis lies a combination of genetic and environmental factors. Several recent studies have pointed to the possible connection of polymorphisms in eNOS gene and idiopathic male infertility.

Methods: The study included 50 infertile men with idiopathic infertility and 50 fertile controls. 4a4b polymorphism was detected by polymerase chain reaction (PCR).

Results: 4b4b genotype was detected in 27 (54%) patients and 36 (72%) controls, 4a4b genotype in 21 (42%) patients and 13 (26%) controls and 4a4a genotype detected in 2 (4%) patients and 1 (2%) control group participant. 4b allele frequency was 75% in the patient population and 85% in the control population, and frequency of allele 4a was 25% with patients and 15% in the control group. There was no statistically significant difference in the distribution of genotypes (p=0.062) nor alleles (p=0.111) between these two populations. Comparing 4a/b genotypes and serum concentration of FSH within patient group, we’ve detected a highly significant correlation (p<0.001), where all carriers of 4b4b genotype had physiological concentration of serum FSH, while most of 4a4a and 4a4b carriers had higher serum FSH values.

Conclusion: Per our results VNTR (4a/b) is not connected to idiopathic male infertility in Serbian men, but they did show a highly significant correlation between serum FSH concentration and 4a/b genotype of infertile men.

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