Vascular endothelial growth factor -2578 A/C, -460 T/C and +405 G/C polymorphisms in polycystic ovary syndrome

Vascular endothelial growth factor (VEGF) may be involved in the physiological regulation of ovarian angiogenesis and pathogenesis of polycystic ovary syndrome (PCOS). VEGF -2578 A/C, -460 T/C and +405 G/C single nucleotide polymorphisms (SNPs) are known to be related to VEGF production.

In order to investigate the possible association between VEGF gene and PCOS susceptibility, we analyzed genotype and allele distributions of above mentioned SNPs in 137 patients with PCOS and 155 healthy women. Differences in genotype distributions and allele frequencies in the cases and controls were compared for statistical significance using the chi(2)-test. Haplotype frequencies were estimated using a contingency chi(2)-test. Mann-Whitney U test was used for the statistics of the clinical and biochemical parameters.

No significant association between PCOS and the variant alleles of VEGF -2578 (OR: 0.91, 95% CI=0.65-1.26), -460 (OR: 0.78, 95% CI=0.56-1.08), and +405 (OR: 1.25, 95% CI=0.81-1.93) was observed. However, haplotype analysis demonstrated that the frequency of CTG haplotype, was higher among PCOS compared with controls (p=0.019) and that there is a strong linkage disequilibrium (D'=0.873, r(2)=0.752) between -2578 and -460 polymorphisms.

These preliminary results suggest that the -2578, -460 and +405 SNPs of VEGF gene are not significant risk factors for PCOS development alone. However, because of the high VEGF producer CTG haplotype was more frequent among the PCOS, we suppose that investigated polymorphisms--interacting with other genetic and environmental factors--could play a role in the development of PCOS.