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Association between CYP2E1 C-1054T and 96-bp I/D genetic variations and the risk of polycystic ovary syndrome in Chinese women

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Abstract

Purpose

To investigate the association of cytochrome P450 2E1 (CYP2E1) C-1054T (rs2031920) and 96-bp I/D genetic variations with the risk of polycystic ovary syndrome (PCOS), and to estimate the effects of genotypes on the clinical, metabolic, hormonal, and oxidative stress indicators.

Methods

This case–control study included 762 control women and 1034 patients with PCOS. Genotypes were determined using polymerase chain reaction and/or restriction fragment length polymorphism analysis. Clinical and biochemical parameters were also analyzed.

Results

Frequencies of the TT + CT genotype (35.4 vs. 28.9%) and T allele (19.6 vs. 16.0%) of the CYP2E1 C-1054T polymorphism were significantly higher in the PCOS group than in the control group (OR = 1.350, 95% CI 1.103–1.652, P = 0.004 for the dominant model). Genotype TT + CT remained a significant predictor of PCOS in a logistic regression model including age, body mass index (BMI), and recruitment year of participants (OR = 1.345, 95% CI 1.071–1.688, P = 0.011). No statistical differences were found in the genotype and allele frequencies of CYP2E1 96-bp I/D polymorphism. However, the combined genotype DD/TT + CT was related to an increased risk of PCOS when the DD/CC wild-type combined genotype was used as a reference. Patients with the I allele of 96-bp I/D polymorphism had a lower BMI but higher plasma apolipoprotein B and oxidized low-density lipoprotein cholesterol levels than those with the DD genotype.

Conclusion

CYP2E1 C-1054T, but not 96-bp I/D, genetic polymorphism is associated with an increased risk of PCOS in Chinese women.

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Data availability

Raw data supporting the conclusions of this article will be made available from the corresponding author upon reasonable request.

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Acknowledgements

The authors would like to thank the women with or without PCOS who donated blood samples for this study. We would also like to thank You Li, Qi Song, Dehua Wan, Ying Wang, Feng Zhang, Jinxia Zhang, Yan Gong, Renjiao Zhang, Jun Tan, and Yujin Zhang for their support in this study.

Funding

This work was funded by the National Natural Science Foundation of China (81370681 and 61875249) and the Program for Chang Jiang Scholars and Innovative Research Team in the University, Ministry of Education (IRT0935).

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Authors and Affiliations

  1. Laboratory of Genetic Disease and Perinatal Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children, Ministry of Education, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, People’s Republic of China

    Y. Pu, Q. Liu, H. Bai & P. Fan

  2. Department of Obstetrics and Gynecology, West China Second University Hospital, Sichuan University, Chengdu, 610041, Sichuan, People’s Republic of China

    H. Liu, W. Huang & M. Xi

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  1. Y. Pu
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Contributions

PF conceived and designed the experiments, analyzed the data, and revised the manuscript. YP performed the experiments and wrote the manuscript. QL conducted the experimental verification and helped with the research. HL and WH recruited and screened the patients. HB and MX assisted with the experiments and revised the manuscript. All authors have read and approved the final manuscript.

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Correspondence to P. Fan.

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The authors declare no conflicts of interest.

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All procedures performed in this study were in accordance with the guidelines of the Declaration of Helsinki. This study was approved by the Institutional Review Board of West China Second University Hospital, Sichuan University (2014-014 to PF).

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All participants provided written informed consent for their involvement in this study.

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Pu, Y., Liu, Q., Liu, H. et al. Association between CYP2E1 C-1054T and 96-bp I/D genetic variations and the risk of polycystic ovary syndrome in Chinese women. J Endocrinol Invest 46, 67–78 (2023). https://doi.org/10.1007/s40618-022-01885-5

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