Autophagy related gene 5 polymorphism rs17587319 (C/G) in asthmatic patients in North Indian population

Abstract

Objective: Genetic background and environmental stimuli play an important role in asthma, which is an individual’s hyper-responsiveness to these stimuli leading to airway inflammation. Autophagy Related Gene 5 (ATG5) plays a critical role in the autophagy pathway and has been shown to be involved in asthma. The genetic polymorphisms in the ATG5 have been reported to predispose individuals to asthma. The role of single nucleotide polymorphism rs17587319 (C/G) of ATG5 in asthma has not been studied so far. Materials and methods: In this study, we in silico analysed rs17587319 (C/G) using web-based tools Human Splice Finder (HSF) and RegulomeDB and further a case-control study was conducted that included 187 blood samples (94 asthmatic and 93 healthy controls). Results: In silico analysis suggested alteration of splicing signals by this intronic variant. The samples were genotyped by applying the PCR-RFLP method. The MAF obtained was 0.022 and 0.043 in healthy controls and asthmatic individuals, respectively. The statistical analysis revealed no association (allelic model, OR = 2.02, 95%CI = 0.59–6.83, p = 0.25; co-dominant model, OR = 2.06, 95%CI = 0.6–7.12, p = 0.24) of rs17587319 (C/G) with the susceptibility to asthma in the north Indian population. Conclusions: In conclusion, rs17587319 (C/G) of ATG5 does not predispose individuals to asthma in our part of the world. Further studies are needed including more number of samples to ascertain the role of this polymorphism in asthma.

Keywords:

• Atg5
• rs17587319
• asthma
• autophagy
• SNP

Acknowledgments

The authors are thankful to the individuals who participated in the study.

Author’s contributions

Sargeet Kaur: performed and analyzed in silico data, statistical analysis of data, and writing the first draft of the manuscript. Arpna: performed and analyzed in silico data, writing the first draft of the manuscript. Durga Jha: helped in genotyping. Rajiv Khosla: collection samples and DNA isolation. Jyoti Parkash: analysis of data. Arti Sharma: in silico data analysis. Manpreet Kaur: writing and approval of the first draft of the manuscript. Harish Changotra: Study concept and design, analyzed data, edited the first draft of the manuscript and supervised.

Declaration of interest

No potential conflict of interest was reported by the author(s).

Disclosure statement

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Additional information

Funding

The author(s) reported there is no funding associated with the work featured in this article.