Novel linkage of Single Nucleotide Polymorphism with Dilated Cardiomyopathy in an Indian case study.

Int J Cardiol Heart Vasc

Biophysics & Structural Genomics Division, Saha Institute of Nuclear Physics, 1/AF Bidhannagar, Kolkata 700064, India.

Published: June 2015

Background: Dilated Cardiomyopathy (DCM) is one of the most commonly encountered heart diseases reported globally. It is characterized by enlarged ventricles with impaired systolic and diastolic functions. Mutations in gene are one of the causative factors to precipitate the disease. However, association of SNPs of with DCM in particular has not been well documented.

Method: Here we present a limited and restricted case study of patients from south eastern part of India afflicted with idiopathic DCM and conduction defects. By using next generation sequencing we have sequenced the exons of gene from genomic DNA isolated from patients.

Result: We have identified the linkage of 8 different SNPs with idiopathic DCM viz. rs121117552, rs538089, rs505058, rs4641, rs646840, rs534807, rs80356803 and rs7339. These SNPs are scattered throughout the gene with prevalence for the region encoding the central rod domain of lamin A/C.

Conclusion: Most of these SNPs in were previously reported to be involved in various disorders other than DCM. We conclude that, variation in is one of the major underlying genetic causes for the pathogenesis of DCM, as observed in few Indian populations.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5497236PMC
http://dx.doi.org/10.1016/j.ijcha.2015.02.008DOI Listing

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