Indian Journal of Human Genetics
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ORIGINAL ARTICLE
Year : 2014  |  Volume : 20  |  Issue : 2  |  Page : 175-184

Prevalence of genetic variants associated with cardiovascular disease risk and drug response in the Southern Indian population of Kerala


1 MedGenome (Division of Molecular Diagnostics), SciGenom Labs Pvt. Ltd, CSEZ, Kakkanad, Cochin, Kerala, India
2 Department of Biotechnology, Karpagam University, Coimbatore, Tamil Nadu, India
3 Department of Biochemistry, Karpagam University, Coimbatore, Tamil Nadu, India
4 Meditrina Cardiac Centre, St. Thomas Hospital, Changanassery, Kerala, India

Correspondence Address:
Changanamkandath Rajesh
Sci Genom Labs Pvt. Ltd, Plot 43A, SDF 3rd Floor, CSEZ, Kakkanad, Kochi, Kerala
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0971-6866.142896

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Background and Aim: This study reports the prevalence of five clinically significant variants associated with increased risk of cardiovascular disorders, and variable responses of individuals to commonly prescribed cardiovascular drugs in a South Indian population from the state of Kerala. Materials and Methods: Genomic DNA isolated from 100 out-patient samples from Kerala were sequenced to examine the frequency of clinically relevant polymorphisms in the genes MYBPC3 (cardiomyopathy), SLCO1B1 (statin-induced myopathy), CYP2C9, VKORC1 (response to warfarin) and CYP2C19 (response to clopidogrel). Results: Our analyses revealed the frequency of a 25 bp deletion variant of MYBPC3 associated with risk of cardiomyopathy was 7%, and the SLCO1B1 "C" allele associated with risk for statin-induced myopathy was 15% in this sample group. Among the other variants associated with dose-induced toxicity of warfarin, VKORC1 (c.1639G>A), was detected at 22%, while CYP2C9*3 and CYP2C9*2 alleles were present at a frequency of 15% and 3% respectively. Significantly, the tested sample population showed high prevalence (66%) of CYP2C19*2 variant, which determines response to clopidogrel therapy. Conclusions: We have identified that certain variants associated with cardiovascular disease and related drug response in the five genes, especially those in VKORC1, CYP2C19 and MYBPC3, are highly prevalent in the Kerala population, with almost 2 times higher prevalence of CYP2C19*2 variant compared with other regions in the country. Since the variants chosen in this study have relevance in disease phenotype and/or drug response, and are detected at a higher frequency, this study is likely to encourage clinicians to perform genetic testing before prescribing therapy.


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