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Clinical Research

Association of BCHE gene SNP rs1803274 (K-variant) and rs3495 with obesity in Pakistani population group

International Journal of Obesity volume 49, pages 881–887 (2025)Cite this article

Subjects

Abstract

Background

Obesity plays a crucial role in the development of metabolic disorders including diabetes, coronary and renal diseases. There are several factors involved in the pathology of obesity, including chronic inflammation and exposure to environmental contaminants. Recently, the cholinergic co-hydrolyzing enzyme BChE has been associated with clinical conditions such as diabetes and obesity. This study aims to investigate the levels of BChE and inflammatory markers in the serum, as well as the association between two specific BCHE gene variants (rs1803274 and rs3495) and the risk of obesity in the Pakistani population.

Methods

The study recruited 350 people with obesity and 200 volunteers with no obesity. Proinflammatory cytokines (TNF-α, IL-6, and IL-1β) levels were quantified using ELISA kits, while the analysis of BCHE gene SNPs rs1803274 (K-variant) and rs3495 was conducted using the tetra-primer amplification refractory mutation-PCR (tetra-ARM-PCR) and PCR-restriction fragment length polymorphism (RFLP) methods, respectively. Additionally, clinico-pathological parameters HDL, LDL, BMI, Homa-IR, insulin, glucose, blood pressure was also assessed in subjects of current study.

Results

Results showed significantly higher levels of BChE, TNF-α, IL-1β, and IL-6 in the obesity group compared to the group without obesity. Furthermore, the obesity group exhibited higher blood pressure and LDL levels, as well as lower HDL levels when compared to group without obesity. Logistic regression analysis revealed a relationship between obesity and higher BChE activity, blood pressure, LDL, and lower HDL levels. The study also found a statistically significant association between the BCHE gene SNPs rs1803274 (K-variant) and rs3495 and the risk of obesity (OR = 2.01; CI = 1.21–3.33; p = 0.0063; OR = 1.80; CI = 1.09–2.96, respectively).

Conclusions

In conclusion, the study suggests that BChE and inflammatory cytokines play a significant role in the development and pathogenesis of obesity and can also act as good diagnostic biomarkers for obesity and its related metabolic disorders.

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Fig. 1: BChE activity in different genotypes of selected BCHE SNPs.
Fig. 2: Receiver operating characteristic curve analysis of BChE and cytokines.

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Data availability

Data will be made available on request.

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Acknowledgements

The authors are thankful to the participating individuals in the study. Thanks to the Department of Biosciences, COMSATS University Islamabad, Pakistan for providing facilities to conduct experiments. This work was supported by Excellence project PrF UHK 2208/2024-2025 and MHCZ - DRO (UHHK, 00179906), Long term development plan UHK.

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Authors and Affiliations

  1. Department of Biosciences, COMSATS University Islamabad, Park Road Tarlai, Islamabad, 45550, Pakistan

    Amna Amir, Sabir Hussain, Syed Tahir Abbas Shah, Rabia Habib, Zahid Muneer & Syed Muhammad Nurulain

  2. Department of Chemistry, Faculty of Science, University of Hradec Kralove, Rokitanskeho 62,500 03, Hradec Kraloveit, Hradec Kralove, Czech Republic

    Eugenie Nepovimova

  3. Center for Advanced Innovation Technologies, VSB-Technical University of Ostrava, 70800, Ostrava-Poruba, Ostrava, Czech Republic

    Eugenie Nepovimova

  4. Biomedical Research Centre, University Hospital in Hradec Kralove, Sokolska 581, 50003, Hradec Kralove, Czech Republic

    Kamil Kuca

  5. Center for Basic and Applied Research, University of Hradec Kralove,, 50003 Hradec Kralove, Czech Republic

    Kamil Kuca

  6. Grand Asian University Sialkot, Pasrur Road, Sialkot, Pakistan

    Syed Muhammad Nurulain

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Contributions

Amna Amir: conceptualization, experiment, data analysis and writing first original draft. Sabir Hussain: supervising genetics part, formal data analysis and review draft. Syed Tahir Abbas Shah: edit and review the draft, data curation. Rabia Habib: data acquisition, review, and editing. Zahid Muneer: data acquisition, edit and review the draft. Eugenie Nepovimova: Resources, formal data analysis, review of draft. Kamil Kuca: conceptualization, resources, and final approval of draft. Syed Muhammad Nurulain: Supervisor, project administration, study design and final approval of draft.

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Correspondence to Kamil Kuca.

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The authors declare no competing interests.

Ethics approval

The study was approved by the Ethical Review Board of the Department of Biosciences, COMSATS University Islamabad (CUI/BIO/ERB/2021/52).

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Consent for the participation in study was obtained from volunteers. A proforma with the information relating to obesity category, age, sex, work practices, dietary habits and other demographic aspects was designed and filled for each participating individual with their consent.

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Amir, A., Hussain, S., Shah, S.T.A. et al. Association of BCHE gene SNP rs1803274 (K-variant) and rs3495 with obesity in Pakistani population group. Int J Obes 49, 881–887 (2025). https://doi.org/10.1038/s41366-025-01715-7

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