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(5) , pp. 441–446 · doi:10.32539/bsm.v5i5.230 · W4249159341
Observational OA: gold CC0 ⤵ 1 in-corpus citation
🔓 Open OA copy Full text JSON View on OpenAlex View at publisher
⚙ AI-generated summary by gemini-2.5-flash-lite, 2026-06-08 ⓘ

This study found that the aromatase gene CYP19 Val 80 A/A genotype is associated with a significantly increased risk of endometriosis compared to the G/G genotype.

One-sentence paraphrase of the abstract; not a substitute for reading it. No clinical advice. How this works

⚙ AI-generated deep summary by claude@2026-06, 2026-06-10 · read from full text ⓘ

This observational case-control study investigated whether aromatase gene polymorphism CYP19 Val 80 (genotypes A/A, G/A, and G/G assessed by PCR-RFLP with Rsa1) is associated with endometriosis risk, using frozen DNA from women who underwent laparoscopy/laparotomy between January and November 2013 at a single hospital; the study included women with endometriosis and/or adenomyosis. The A/A genotype frequency was higher in the endometriosis group than in controls (21.3% vs 8.5%), while G/G was lower (9.6% vs 18.1%). Women carrying A/A had a significantly increased risk of endometriosis compared with those with G/G (OR 4.722, p<0.05). This paper is centrally about endometriosis—specifically the association between CYP19 Val 80 aromatase gene polymorphism and endometriosis risk, using DNA from women with endometriosis and/or adenomyosis.

Read from the paper's body, not the abstract. Not a substitute for reading the paper. No clinical advice. How this works

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.
Full text 2,445 characters · extracted from oa-doi-fallback · 5 sections · click to expand

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

Article Details As our aim is to disseminate original research article, hence the publishing right is a necessary one. The publishing right is needed in order to reach the agreement between the author and publisher. As the journal is fully open access, the authors will sign an exclusive license agreement. The authors have the right to: - Share their article in the same ways permitted to third parties under the relevant user license. - Retain copyright, patent, trademark and other intellectual property rights including research data. - Proper attribution and credit for the published work. For the open access article, the publisher is granted to the following right. - The non-exclusive right to publish the article and grant right to others. - For the published article, the publisher applied for the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International License.

Text is read by the "Ask this paper" AI Q&A widget below. Extraction quality varies by source — PMC NXML preserves structure cleanly, OA-HTML may include some navigation residue, and OA-PDF can have broken hyphenation. The publisher copy (via DOI) is the canonical version.

My notes (saved in your browser only)

⚙ Ask this paper AI returns verbatim quotes from the full text · source: oa-doi-fallback ⓘ

Answers must be backed by verbatim quotes from this paper's full text. Hallucinated quotes are dropped automatically; if no verbatim passage answers the question, we say so. How this works

Condition tags

endometriosisadenomyosis

Citation neighborhood (sparse)

Too few in-corpus citations on either side for a chart; here are the lists.

Cites (4)

Cited by (1)

References (6)

Cited by (1)

Source provenance

openalex
last seen: 2026-06-10T17:14:06.276822+00:00
License: CC0 · commercial use OK