Impact of copy number variation on common and complex diseases

International Conference on Cytopathology

August 31-September 02, 2015 Toronto, Canada

Hoh Boon-Peng

UCSI University, Malaysia

Posters-Accepted Abstracts: J Cytol Histol

Abstract :

The ultimate goal of human genetics is to understand the role of genome variation in elucidating human traits and diseases. Although gene mapping strategies like genome-wide association studies (GWAS) had shown some success stories in the common and complex diseases, the inheritance of these diseases are largely unknown hence the â�?�?missing heritabilityâ�? is unresolved. Besides single nucleotide polymorphism (SNP), copy number variation (CNV) defined as gains or losses of a DNA segment larger than 1 kb has recently emerged as an important tool in understanding heritable source of human genomic differences. It has been shown to contribute to genetic susceptibility of neuropsychiatric diseases, autoimmune diseases and some rarer and highly inherited cardiovascular diseases such as dilated cardiomyopathy. Using the infectious disease (Dengue) and cardiovascular disease (hypertension related left ventricular hypertrophy) as the models, we prove that the rare structural variants could contribute to the susceptibility of common and complex diseases. We revealed that the rare copy number variants altered the cell signaling related to immune response of the host therefore leading to vascular leakage in dengue. On a separate note, we also showed that the â�?�?fetal cardiac gene programâ�? is altered by the rare copy number variant therefore resulted in left ventricular hypertrophy during pressure overload.

Biography :

Email: hoh.boonpeng@gmail.com