ABSTRACT
Uterine leiomyoma is the most common benign smooth muscle tumour of the myometrium. This study was carried out to evaluate the association of ESR1, CYP1A1 and CYP1B1 polymorphism with uterine leiomyoma in Egyptian women. The study population consisted of 160 patients with uterine leiomyoma and 100 healthy women as control. All patients and control were matched as regards age, height, weight, number of parity and oral contraceptives. The genetic polymorphisms were analysed by polymerase chain reaction restriction fragment length polymorphism [PCR-RFLP] using the following primers. For ESR1 MSP1 exon 1, [forward, 5'-CTGCCACCCTATCTGTATCTTTTCCTATTCTCC-3'; reverse, 5'TCTTTCTCT-GCCACCCTGGCGTCGATTATCTGA-3']. For CYP1A1 Ile462 val [A/G], [forward, 5'-GATCTGAGTTCCTACCTGA-3'; Reverse, 5'-TAGCGTCCAAGAG-AAAGACCTCCCAGCGCTCAA-3']. For CYP1B1 Leu432Val [C/G], [Forward, 5'CACCA-CTGCCAACACCTCTGTC3', reverse 5'-AGTTCTCCGGGTTAGGCCACTTAA-3']. The results of this work revealed that there was no statistically significant differences overall associations between the ESR1 exon I C/T genotypes and uterine leiomyoma [P=0.67]. However, an elevated risk of uterine leiomyoma was observed among women with the CYP1A1 Ile462 val A/G genotype [P=0.01] and CYP1B1 Leu 432 val C/C genotype [P=0.027]. From this study, we can conclude that the carriage of CYP1A1 Ile462 val A/G and CYP1B1 Leu 432 val C/C genotypes predict the susceptibility to leiomyoma in Egyptian women and they are likely to contribute in the pathogenesis of leiomyoma