Molecular Evaluation of Exon 8 Cystathionine rs5742905T T>C Gene Polymorphism and Determination of its Frequency, Distribution Pattern, and Association with Susceptibility to Coronary Artery Disease in the North Indian Population

Author:

Sumi Mamta P.1,Guru Sameer A.2,Mir Rashid3,Sahu Samantak4,Bhat Musadiq A.5,Girish M.P.6,Saxena Alpana1

Affiliation:

1. Department of Biochemistry, Maulana Azad Medical College, University of Delhi, Delhi, India

2. Department of Biochemistry and Multidisciplinary Research Unit (MRU), MAMC, University of Delhi, Delhi, India

3. Prince Fahd Bin Sultan Research Chair, Department of Medical Lab Technology, Faculty of Applied Medical Sciences, University of Tabuk, Tabuk, Saudi Arabia

4. Department of Physical Medicine and Rehabilitation, All India Institute of Medical Science, New Delhi, India

5. Institute of Pharmacology and Toxicology-Neuropharmacology, University of Zurich-Winterthurerstrasse, Zurich, Switzerland

6. Department of Cardiology, GB Pant Hospital, University of Delhi, Delhi, India

Abstract

Background: The protein coded by the cystathionine β synthase (CBS) gene acts as a catalyzer and converts homocysteine to cystathionine. Impairment of the CBS gene leads to homocystinuria by cystathionine β synthase deficiency which is linked to Coronary Artery Disease. A number of polymorphisms studies have been performed on the cystathionine β synthase gene. In the current study, we planned to analyze the influence of CBS T833C gene polymorphism(exon 8 cystathionine rs5742905T T>C), its association with Coronary Artery Disease development, and its progression in the north Indian population. Materials and Methods: The present study comprises 100 angiographically confirmed CAD patients and 100 age and sex-matched healthy controls. A total of 50% or more luminal stenosis at one major coronary artery was considered for the inclusion criteria of the cases. The investigation of T833C polymorphism in the CBS gene was performed by PCR- RFLP technique. Result: As a result, we found that homozygous mutant (CC) and heterozygous (TC) genotypes of CBS T833C gene polymorphism were significantly higher in CAD patients than in healthy subjects. We also observed a substantially increased CAD risk in dominant, codominant inheritance, and allele-specific models for the CBS T833C gene polymorphism. We analyzed the differential distribution with respect to disease severity, but there was no significant association (p=0.96). Conclusion: In conclusion, this study demonstrates that CBS T833C gene polymorphism plays a key role in developing coronary artery disease and its progression.

Publisher

Bentham Science Publishers Ltd.

Subject

Cardiology and Cardiovascular Medicine,Pharmacology,Hematology,Molecular Medicine,General Medicine

Reference41 articles.

1. Gaziano T.A.; Gaziano J.M.; Longo D.L.; Fauci A.S.; Kasper D.L.; Hauser S.L.; Jameson J.L.; Loscalzo J.; Epidemiology of cardiovascular disease. Harrison’s Principles of Internal Medicine 18th ed Longo, DL; Fauci, AS; Kasper, DL; Hauser, SL; Jameson, JL; Loscalzo, J, Eds The McGraw-Hill Companies: New York, NY, [Internet] [cited 2018 Apr 192012

2. WHO | Cardiovascular diseases (CVDs)Available from:

3. WHO | Cardiovascular diseases (CVDs) Available from:

4. Mir R.; Bhat M.; Javid J.; Jha C.; Saxena A.; Banu S.; Potential impact of COMT-rs4680 G > A gene polymorphism in coronary artery disease. J Cardiovasc Dev Dis 2018,5(3),E38

5. Jha C.K.; Mir R.; Khullar N.; Banu S.; Chahal S.M.S.; ldlr rs688 tt genotype and t allele are associated with increased susceptibility to coronary artery disease-a case-control study. J Cardiovasc Dev Dis 2018,5(2),E31

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