A polymorphic MYBPC3 variant as a major risk factor of cardiomyopathy in South Asian descendants

Project: Research project

Project Details

Description

We will conduct the analysis of the next generation sequencing data in Aim 2 to evaluate the presence of additional rare and common variants in addition to the MYBPC3Δ25 deletion. These studies are designed to evaluate whether additional cardiomyopathic variants contribute to the manifestation of cardiomyopathy and heart failure in gene carriers of MYBPC3Δ25. It is estimated that more than 400,000 South Indians live in the Chicago area and that nearly 8% of these individuals are carriers of the MYBPC3Δ25 variant. We have experience in whole genome analysis for cardiomyopathy as well as extensive experience derived from genetic testing in cardiomyopathy families.
StatusFinished
Effective start/end date8/15/1611/30/16

Funding

  • University of Cincinnati (010550-002//15CVGPSD27020012)
  • American Heart Association (010550-002//15CVGPSD27020012)

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