Polymorphisms of Renin Angiotensin System Genes in Uterine Leiomyomas Among Egyptian Females

Abstract

Background: Uterine leiomyomas are the most common gynecological benign myometrial neoplasms. They have been associated with infertility and recurrent abortion as well as obstructed labor and post-partum hemorrhage. They are the most important indication for hysterectomy. The renin angiotensin system (RAS), in particular angiotensin type 1 receptor (AT1R) and to a lesser extent angiotensin II, angiotensin converting enzyme (ACE) and angiotensin type 2 receptor (AT2R), are often upregulated during the progression from normal to malignant phenotypes indicating a possible correlation between RAS and tumor progression. The present study investigated the association of A1166C single nucleotide polymorphism (SNP) of AT1R gene and insertion deletion (I/D) polymorphism of ACE gene with uterine leiomyomas in Egyptian females.

Method: The study was carried out on 124 Egyptian females divided into 70 patients diagnosed as having uterine leiomyomas and 54 matched control females. DNA extraction from peripheral blood leucocytes was done using commercial kits for detection of the presence of the (I) and (D) alleles in the ACE gene by polymerase chain reaction (PCR) amplification using specific primers and detection of A1166C gene polymorphism using polymerase chain reaction and restriction fragment length polymorphism (PCR/RFLP) technique.

Results: The genotype distribution patterns of A1166C polymorphism of AT1R gene among leiomyoma patients were statistically significantly different (P = 0.028) from the control group where patients had a higher frequency of CC genotype than controls (8.6% versus 0%), a higher frequency of AC than controls (35.7% versus 25.9%) and a lower frequency of AA than controls (55.7% versus 74.1%). However, ACE I/D polymorphism was not found to be associated with uterine leiomyoma.

Conclusions: We found a significant association of A1166C polymorphism in AT1R gene with uterine leiomyoma among Egyptian females suggesting that its potential regulatory function warrants further investigation.




J Clin Gynecol Obstet. 2015;4(1):170-176
doi: http://dx.doi.org/10.14740/jcgo300w