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

Syifa Alkaf, Ziske Maritska, Venny Patricia
In: Bioscientia Medicina : Journal of Biomedicine and Translational Research · 2021 · vol. 5(2) , pp. 373–378 · doi:10.32539/bsm.v5i2.230 · W3130611782
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This case-control study found that the A/A genotype of the aromatase gene CYP19 Val 80 polymorphism significantly increases the risk of endometriosis compared to the G/G genotype.

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Abstract

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.
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Abstract

Background: Endometriosis implant has been known to express aromatase enzyme, Cytochrome p450 that catalyzes androgen into estrogen. It causes local estrogen production, leading to increased estrogen level, and subsequently triggers endometriosis lesion. CYP19 gene resided at chromosome 15q21.1 is the biggest component of aromatase coding cytochrome p450 enzyme.

Objective

To identify relationship between aromatase gene polymorphism CYP19 Val 80 and the risk of endometriosis. Methods: This is an observational case-control study using frozen DNA sample from women with endometriosis and/ or adenomyosis who had undergone laparotomy/ laparoscopy at Obstetrics and Gynecology Department Dr. Mohammad Hoesin General Hospital Palembang January-November 2013. Samples were amplified and cut by PCR-FRLP using Rsa1 restriction enzyme. Results were divided into A/A genotype (homozygote mutant), G/A (heterozygote mutant), and G/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 and 22 (23.4%) in control group. G/G genotype were 9 (9.6%) and 17 (18.1%) in endometriosis group and control group, respectively. There was significant increase risk of endometriosis in women carrying genotype A/A to those with genotype G/G with OR 4.722 (p<0.05).

Conclusion

Polymorphism on aromatase gene CYP19 Val 80 A/A increases risk of endometriosis.

Keywords

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Condition tags

endometriosisadenomyosis

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Papers in the corpus that this work cites (lower rings, blue) and that cite this one (upper rings, green). Dot size scales with the paper's in-corpus citation count — bigger dot = more influential within the endo/adeno field. Click a dot to open that paper. [ expand to 2 hops ] — adds papers reached through this work's immediate citers/citees. Heavier; up to 60 extra dots.

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