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Assessment of Glu504 Lys Genotype and Single Nucleotide Polymorphisms in Exon 12 and 13 of ALDH2 Gene in Alcoholic Liver Cirrhosis Patients in Northern Karnataka, India: A Cross-sectional Study
Correspondence Address :
Dr. Gurushantappa S Kadakol,
Assistant Professor, Department of Genetics Laboratory, Anatomy, BLDE (DU) SBMPMC, Vijayapura-586103, Karnataka, India.
E-mail: gs.kadakol@bldedu.ac.in
Introduction: Alcoholic Liver Disease (ALD) is one of the most significant issues affecting the world today and is the principal cause of atleast 60 of the most significant forms of systemic disorders. The metabolic breakdown of alcohol into acetaldehydes is catalysed by Alcohol Dehydrogenase (ALDH).
Aim: To find out the Glu504 Lys genotype and Single Nucleotide Polymorphisms (SNPs) in the exon 12 and 13 of ALDH2 gene in alcoholic liver cirrhosis patients.
Materials and Methods: This cross-sectional study was conducted at the Department of General Medicine and Genetics Laboratory of the BLDE (Deemed to be University) Shri BM Patil Medical College Hospital and Research Centre (SBMPMC), Vijayapura, Karnataka, India. The study period was from January 2021 to June 2022. ALD patients were recruited. For the present study, 32 patients with ALD symptoms were recruited, and a total of 32 age- and sex-matched controls were included. Patients with existing or past co-infections with Hepatitis B or C and other causes of chronic liver disease were excluded. Blood samples were collected from all patients and subjected to genetic analysis; Polymerase Chain Reaction (PCR) products were then analysed using Sanger-based Deoxyribonucleic Acid (DNA) sequencing.
Results: The mean age of all patients and controls in the present study was 44.06 and 52.09 years, respectively. Out of 32 cases, two mutations were found in exon 13: g.47794 A>T (heterozygous) and g.47854 T>G (heterozygous). These mutations occurred in patients who were younger (mean age 29.5 years) and consumed less alcohol (108 g/day) for a shorter duration (5.5 years) compared to the remaining cases. No SNPs were found in exon 12 of the ALDH2 gene.
Conclusion: Mutations in the exon 13 regions of the ALDH2 gene may be responsible for early predisposition to the disease. Early genetic analysis in selected populations to identify these mutations may help prevent the occurrence of the disease. An association study of the ALDH2 gene with ALD will be conducted in larger samples, along with biochemical and other clinical investigations, to determine the association of these gene polymorphisms.
Alcohol dehydrogenase, Alcoholic liver disease, Heterozygous mutation
DOI: 10.7860/JCDR/2024/70058.19561
Date of Submission: Feb 10, 2024
Date of Peer Review: Apr 08, 2024
Date of Acceptance: May 07, 2024
Date of Publishing: Jun 01, 2024
AUTHOR DECLARATION:
• Financial or Other Competing Interests: None
• Was Ethics Committee Approval obtained for this study? Yes
• Was informed consent obtained from the subjects involved in the study? Yes
• For any images presented appropriate consent has been obtained from the subjects. NA
PLAGIARISM CHECKING METHODS:
• Plagiarism X-checker: Feb 10, 2024
• Manual Googling: Apr 11, 2024
• iThenticate Software: May 06, 2024 (13%)
ETYMOLOGY: Author Origin
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