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Association between type 2 diabetes mellitus and TCF7L2 gene variant in the Pakistani cohort

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Abstract

Introduction

Type 2 diabetes mellitus (T2DM) is one of the leading preventable chronic diseases with high rates of morbidity and mortality. It is multi-factorial, polygenic, and characterized by chronic hyperglycemia. Transcription factor 7-like 2 (TCF7L2), a key component of the canonical Wnt signaling pathway, is one of the most susceptible genes with the largest effect on T2DM. Pakistan is populated with the rising trend of T2DM in the adult population, hence to advocate the previous though scarce findings, this case–control study was designed to see T2DM prevalence and its association with TCF7L2 intronic variant, rs12255372.

Methodology

DNA extraction and genoty** through the tetra primer amplification refractory mutation system (T-ARMS-PCR) were done on a total of 162 collected samples of the Pakistani cohort. Data was statistically analyzed by SPSS IBM v20 and the Hardy–Weinberg equilibrium test was applied to see the stratification.

Results

The variant genotyped was in Hardy–Weinberg equilibrium (p > 0.05). The SNP rs12255372 showed an association with T2DM and remained significant after multiple adjustments for age and body mass index. The T allele showed a positive association in study subjects.

Conclusion

The study concluded, TCF7L2 SNP, rs12255372 are associated with T2DM. The risk allele T is more susceptible to T2DM in the later age group (40–70 years) of females and the early age group (20–40 years) of males. This gender effect is a unique finding, and further, more replicated studies need to be carried out to determine the effects of risk factors.

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Funding

Institute of Industrial Biotechnology, GCU Lahore and Department of Biological and Biomedical Sciences, AKU Karachi research module fund.

Author information

Authors and Affiliations

  1. Institute of Industrial Bio-Technology, GC University, Lahore, Pakistan

    Afira Waqar, Ikram-ul Haq, Muhammad Nauman Aftab & Ali Nawaz

  2. Department of Biosciences, Salim Habib University, Karachi, Pakistan

    Afira Waqar

  3. Department of Biological and Biomedical Sciences, Aga Khan University, Karachi, Pakistan

    Bushra Chaudhry

  4. Department of Biochemistry, University of Alberta, Edmonton, Canada

    Kausar Saboohi

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  1. Afira Waqar
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Contributions

AW carried out the literature search, data collection, experimental analysis, interpretation, and manuscript writing. BC and IH were involved in finalizing the manuscript and revising it critically for important intellectual content. KS was involved in experimental analysis, and AN was involved in proofreading and submission. The final manuscript was approved by all authors for publication.

Corresponding author

Correspondence to Ikram-ul Haq.

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Ethics and consent

This study was approved by the institutional bioethics committee in the Government College University, Lahore (GCUL). The study was conducted in accordance with the ethical standards as laid down in the 1964 Declaration of Helsinki and its later amendments or comparable ethical standards. The participants were included in the study after signing a consent proforma.

Ethics approval

An ERC approval (GCU-IIB-153) was obtained, and every participant signed an informed written consent.

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The authors declare no competing interests.

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Waqar, A., Chaudhry, B., Haq, Iu. et al. Association between type 2 diabetes mellitus and TCF7L2 gene variant in the Pakistani cohort. Int J Diabetes Dev Ctries 43, 807–815 (2023). https://doi.org/10.1007/s13410-022-01138-4

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