ABSTRACT
Background: Human arylamine N-acetyltransferase 2 [NAT2] gene has a key role in xenobiotic metabolism through the conjugation of acetyl group to xenobiotic substances. NAT2 has been suggested as a susceptibility factor in endometriosis; however, the results of studies have been controversial. In this study, the association of NAT2 polymorphisms with susceptibility to endometriosis was evaluated in an Iranian population
Methods: This is an association study and totally 141 women with diagnosis of endometriosis and 158 healthy women as control group were analyzed for NAT2 gene polymorphisms [C481T, A803G, G857A and G590A] by PCR-RFLP methods
Results: The 590 GA genotype was significantly lower [p=0.001; OR=0.42, 95% CI: 0.25-0.71] in the patients [38.3%] than the control group [55.1%]. The 590A allele was significantly lower [p=0.033; OR=0.69, 95% CI: 0.49-0.79] in the patients [31.2%] compared with the controls [39.6%]. Analysis of haplotypes showed that NAT2 481C, 803A, 590A, 587A combination was significantly different between the case and control women [p= 0.029; OR=3.11, 95% CI: 1.13-8.52]
Conclusion: The NAT2 G590A SNP may be associated with susceptibility to endometriosis and the 590A allele may have a protective role in development of endometriosis. The NAT2 481C, 803A, 590A, 587A haplotype was associated with a higher risk of endometriosis in Iranian population
ABSTRACT
Background: Endometriosis influenced by both genetic and environmental factors. Associations of glutathione S-transferases [GSTs] genes polymorphisms in endometriosis have been investigated by various researchers; however, the results are not consistent
Objective: We examined the associations of GSTM1 and GSTT1 null genotypes and GSTP1 313 A/G polymorphisms with endometriosis in an Iranian population
Materials and Methods: In this case-control study, 151 women with diagnosis of endometriosis and 156 normal healthy women as control group were included. The genotyping was determined using multiplex PCR and PCR- RFLP methods
Results: The GSTM1 null genotype was significantly higher [p=0.027] in the cases [7.3%] than the control group [1.3%]. There was no significant difference between the frequency of GSTT1 genotypes between the cases and controls. The GSTP1 313 AG genotype was significantly lower [p=0.048] in the case [33.1%] than the control group [44.4%]
Conclusion: Our results showed that GSTM1 and GSTP1 polymorphisms may be associated with susceptibility of endometriosis in Iranian women
ABSTRACT
Angiogenesis, growth of new blood vessels from pre-existing vessels, is a crucial physiological process for tissue regeneration. This state is also seen in pathological processes such as malignancies and endometriosis. Vascular endothelial growth factor [VEGF] is a major mediator of angiogenesis and vascular permeability which is known to play an important role in the development of endometriosis. The aim of this study was to investigate the relationship between +405 G>C VEGF polymorphism and endometriosis in an Iranian population. The study population was comprised of 105 women with and 150 women without laparoscopic evidence of endometriosis. Genomic DNA from blood cells was extracted using salting out method. Genotype and allele frequency of +405 G>C polymorphism was compared between women with endometriosis and the controls using PCR-RFLP. Statistical analysis was performed using SPSS 13.0 software. Chi-squared test and odds ratio plus 95% confidence interval were determined. A p-value less than 0.05 was considered statistically significant. While the +405 VEGF genotype frequencies in the case group were 41.3% G/G, 46.2% C/G and%12.5 C/C, they were 32% GG,%53.3 GC and 14.7% CC in the control group. The distribution of three genotypes and allele frequencies of+405 G>C VEGF polymorphism between the case and control groups did not demonstrate any significant difference. In contrast to previous studies, no significant correlation was found between +405 G>C VEGF polymorphism and endometriosis. Since this was the first study in an Iranian population, further investigation with bigger sample sizes may be indicated to be able to generalize the findings