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Association analysis between ARG1 gene polymorphisms and idiopathic dilated cardiomyopathy
Syed Fawad Ali Shah1, Sumaira Akram1, Tahir Iqbal2
1Department of Biosciences, COMSATS University Islamabad, Park Road Chak Shehzad.
Medicine
|November 26, 2019
Summary
This study links arginase 1 (ARG1) gene variations and elevated arginase activity to idiopathic dilated cardiomyopathy (IDCM) in Pakistani subjects. These findings suggest ARG1 polymorphisms may contribute to IDCM development.
Area of Science:
- Genetics
- Cardiology
- Biochemistry
Background:
- Idiopathic dilated cardiomyopathy (IDCM) is a significant cause of heart failure.
- The role of arginase 1 (ARG1) in cardiovascular diseases, including IDCM, requires further investigation.
- Genetic variations in ARG1 may influence disease susceptibility and progression.
Purpose of the Study:
- To investigate the association between ARG1 gene polymorphisms and IDCM in a Pakistani population.
- To evaluate serum arginase activity levels in IDCM patients compared to healthy controls.
- To explore the relationship between ARG1 genotypes, haplotypes, and IDCM phenotypes.
Main Methods:
- A case-control study involving 352 IDCM patients and 352 healthy controls.
- Serum lipids quantified by spectrophotometry; arginase activity measured by enzyme colorimetric assay.
- ARG1 polymorphisms (rs2781666, rs2781667) genotyped using polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP).
Main Results:
- IDCM subjects exhibited significantly higher serum arginase activity compared to controls (P < .0001).
- Elevated arginase levels negatively correlated with serum nitrite and nitrate.
- Significant differences in ARG1 genotype distributions (rs2781666, rs2781667) and a strong association of the variant T allele and TT haplotype with IDCM were observed (P < .0001).
Conclusions:
- This study provides the first evidence of a significant association between ARG1 polymorphisms and IDCM in subjects from Pakistan.
- Increased arginase activity and specific ARG1 genetic variants are implicated in the pathogenesis of IDCM.
- These findings highlight ARG1 as a potential genetic marker and therapeutic target for IDCM.
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