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Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer

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Abstract

Background

In India, esophageal cancer (EC) is among the major cause of cancer-related deaths in both sexes. In recent past, autophagy has emerged as one of the crucial process associated with cancer. In the development of EC, the role of autophagy and the precise molecular mechanism involved has yet to be fully understood. Recently, a small number of studies have proposed how variations in autophagy genes affect the growth and development of EC. Micro-RNA’s are also known to play a critical role in the development of EC. Here, we examined the relationship between the risk of EC and two single-nucleotide polymorphisms (SNPs) in the key autophagy genes, ATG10 rs1864183 and ATG16L1 rs2241880. We also analyzed the association of miR-107 and miR-126 with EC as these miRNA’s are associated with autophagy.

Methods and results

A total of 230 EC patients and 230 healthy controls from North-west Indian population were enrolled. ATG10 rs1864183 and ATG16L1 rs2241880 polymorphism were analyzed using TaqMan genotyping assay. Expression levels of miR-107 and miR-126 were analyzed through quantitative PCR using SYBR green chemistry. We found significant association of CT + CC genotype (OR 0.64, p = 0.022) in recessive model for ATG10 rs1864183 polymorphism with decreased EC risk. For ATG16L1 rs2241880 polymorphism significant association for AG genotype (OR 1.48, p = 0.05) and G allele (OR 1.43, p = 0.025) was observed for increased EC risk. Expression levels of miR-126 were also found to be significantly up regulated (p = 0.008).

Conclusion

Our results suggest that ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 may be associated with esophageal carcinogenesis and warrant further investigation.

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Data Availability

The datasets generated and analyzed during the current study are available from the corresponding author on reasonable request.

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Acknowledgements

We are extremely thankful to all the subjects who participated in the current study. Senior Research Fellowship (ICMR-SRF) from ICMR to Jagmohan Singh Bali is highly acknowledged.

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Authors and Affiliations

  1. Human Cytogenetics Laboratory, Department of Human Genetics, Guru Nanak Dev University, Amritsar, Punjab, India

    Jagmohan Singh Bali, Vasudha Sambyal, Sanjana Mehrotra, Priyanka Gupta & Kamlesh Guleria

  2. Department of Surgery, Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah, Amritsar, Punjab, India

    Manjit Singh Uppal

  3. Department of Radiotherapy, Sri Guru Ram Das Institute of Medical Sciences and Research, Vallah, Amritsar, Punjab, India

    Meena Sudan

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  1. Jagmohan Singh Bali
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Contributions

VS, KG and SM conceptualized and designed the experiment. JSB performed the experiments, analyzed the results and prepared the manuscript. PG assisted in experiments and result analysis. MSP and MS did diagnosis, clinical and histopathological classification and helped in acquiring blood samples of esophageal cancer patients. All the authors approved the final draft of the manuscript.

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Correspondence to Vasudha Sambyal.

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The authors declare no conflict of interest, financial or otherwise.

Ethical approval and Consent to participate

The study was approved by the institutional ethics committee of Guru Nanak Dev University, Amritsar, Punjab, India and after informed consent as per tenets of declaration of Helsinki, 5 ml peripheral venous blood sample was collected from each subject.

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Bali, J.S., Sambyal, V., Mehrotra, S. et al. Association of ATG10 rs1864183, ATG16L1 rs2241880 and miR-126 with esophageal cancer. Mol Biol Rep 51, 231 (2024). https://doi.org/10.1007/s11033-023-09012-0

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