The Association between Aromatase Gene Polymorphism Cyp19 Val 80 and Endometriosis Risk

A B S T R A C TIntroduction: Endometriosis implant has been known to express aromataseenzyme, Cytochrome p450 that catalyzes androgen into estrogen. It causes localestrogen production, leading to increased estrogen level, and subsequently triggersendometriosis lesion. CYP19 gene resided at chromosome 15q21.1 is the biggestcomponent of aromatase coding cytochrome p450 enzyme. Objective: To identifyrelationship between aromatase gene polymorphism CYP19 Val 80 and the risk ofendometriosis. Methods: This is an observational case-control study using frozenDNA sample from women with endometriosis and/ or adenomyosis who hadundergone laparotomy/ laparoscopy at Obstetrics and Gynecology Department Dr.Mohammad Hoesin General Hospital Palembang January-November 2013. Sampleswere amplified and cut by PCR-FRLP using Rsa1 restriction enzyme. Results weredivided into A/A genotype (homozygote mutant), G/A (heterozygote mutant), andG/G (homozygote wild type). Data were analyzed by SPSS 21.0 version. Results:PCR-RFLP results for A/A genotype were 20 (21.3%) in endometriosis group and 8(8.5%) in control group. G/A genotype were 18 (19.1%) in endometriosis group and22 (23.4%) in control group. G/G genotype were 9 (9.6%) and 17 (18.1%) inendometriosis group and control group, respectively. There was significant increaserisk of endometriosis in women carrying genotype A/A to those with genotype G/Gwith OR 4.722 (p<0.05). Conclusion: Polymorphism on aromatase gene CYP19 Val80 A/A increases risk of endometriosis.