Janina Jeff, Ph.D.

Janina Jeff, Ph.D.

Human Genetics, 2012

Advisor: Dana Crawford, Ph.D.

Current position: Global Bioinformatics Specialist, Illumina

Dissertation Description

The Genetics of Quantitative Traits Associated with Cardiovascular Disease in African Americans

Cardiovascular disease (CVD) is the leading cause of death in most developed countries. CVD has a strong genetic component and risk of CVD is not uniformly distributed across populations with African Americans and Hispanics having increased risk compared to Europeans. Routine clinical measurements from human blood (white blood cell count, fibrinogen levels, and platelet count) and electrical heart activity (ECGs) are quantitative predictors of CVD. The primary objective of my dissertation research was to identify genetic loci that might explain the disparity across populations, specifically in African Americans, for quantitative predictors of CVD. This work yielded several clinically relevant conclusions: (1) Genetic variation in sodium channels varies across population for ECG phenotypes. (2) Genes in the fibrinogen gene cluster are associated with fibrinogen levels, as well as other blood measurements associated with CVD, suggesting pleiotropic genetic effects. (3) The interaction between genes and/or the environment might explain the inter-individual variation for quantitative predictors of CVD in African Americans.