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Ashish Kapoor

Ashish Kapoor

Regular Member

Assistant Professor

[email protected]
SRB 530C

The University of Texas Health Science Center at Houston
McGovern Medical School
Institute of Molecular Medicine

Center for Human Genetics

Research in my laboratory is focused on understanding how sequence variation in non-coding cis-regulatory elements (CREs) modulating gene expression leads to phenotypic variation and utilizes electrocardiographic QT interval as a model quantitative trait for mechanistic understanding of complex traits/diseases. Variation in gene expression regulation, largely due to sequence variation in CREs, has been a key to development and evolution across species, primarily through trait variation within a species. In humans, for example, genome-wide association studies (GWAS) have beyond doubt established a major role for variable gene expression as the basis for trait variation and disease risk. However, the specific molecular components and structure of this regulatory apparatus underlying gene expression variation remains largely unknown and is our primary research focus. QT interval, with a heritability of 35%, is a clinically relevant quantitative trait as its prolongation or shortening is associated with an increased risk of cardiovascular morbidity and mortality, primarily in the form of cardiac arrhythmias leading to sudden cardiac death (SCD), which is the leading cause of deaths in US. A major reason for studying the QT interval regulation is to understand the genetic risk factors for SCD in the general population. Genetic variation is a major source of QT interval variation and GWAS of the QT interval in the general population have identified at least 35 loci that together explain ~10% of the phenotypic variance. Current studies in my laboratory aim to understand the molecular basis of these observed genetic associations. 

A tutorial in my laboratory will provide an introduction to the wide variety of genetic, biochemical, cellular, functional genomic and computational approaches we take to perform the molecular characterization of GWAS signals that involves identification of the CREs whose functions are altered by disease/trait associated variants, the transcription factors whose bindings are disrupted at the CREs due to causal variants, the target gene whose expression is modulated, and then linking the perturbation of target gene expression to a trait/disease relevant cellular or organismal phenotype.


IMM Faculty

Education & Training

PhD, Jawaharlal Nehru Centre for Advanced Scientific Research, 2007