UNIVERSITY PARK, Pa. — Cardiovascular disease is the leading cause of death in the United States, according to the Centers for Disease Control, and Hispanic/Latino (hereafter referred to as Hispanic) populations are more likely than non-Hispanic populations to experience common risk factors for cardiovascular disease like Type 2 diabetes and obesity. A new, $2.5 million grant from the National Heart Lung and Blood Institute will allow researchers from Penn State and University of North Carolina at Chapel Hill to examine the genetic underpinnings of heart attack and stroke in a consortium of studies of Hispanic populations from across the Americas. 

Genomic studies allow researchers to explore how variation in DNA influences the health of individuals within a population. Genomic data and analyses for Hispanic populations have been very limited. According to the Genome-wide association study (GWAS) diversity monitor, Hispanics populations represent less than 1% of all GWAS study samples to date.  

In this project, Lindsay Fernández-Rhodes, assistant professor of biobehavioral health at Penn State, and Mariaelisa Graff, associate professor of epidemiology at University of North Carolina at Chapel Hill, will compile and analyze genomic datasets of Hispanic populations from across the Americas to study which genes (or genetic regions) are associated with strokes and heart attack. The researchers expect to discover new genes associated with cardiovascular diseases, and they are hopeful that these discoveries could lead to the development of new prevention programs or treatments for cardiovascular disease. 

"Cardiovascular disease is already the leading cause of death among Hispanics, and there are reasons to believe that it will become more prevalent in the coming years," said Fernández-Rhodes. "Hispanic people in the United States are presently younger than the population of the nation as a whole, and cardiovascular disease is more common among older people. Additionally, Hispanic populations in the United States have higher rates of multiple conditions that are associated with increased risk of heart attack or stroke including obesity, diabetes and high blood pressure."

This research builds on earlier work by Fernández-Rhodes and Graff that mapped risk factors for cardiometabolic disease onto specific genetic regions using the largest sample ever assembled of genomic data from Hispanic populations.

“In our last large study, we identified many new genetic markers of cardiometabolic risk,” said Fernández-Rhodes. “Now, we want to look at how those risk variants — or others yet to be discovered — affect cardiovascular health outcomes, specifically strokes and heart attacks.”

In this study, researchers will use genetic data collected from a variety of sources across North and South America. This is important, according to the researchers, because it will build a publicly available database of gene expression data on Hispanic populations for use in future studies. Until now, there had been no data on Hispanic populations available to assess how genetic risk factors influence gene expression, as there is for populations of European descent.

“Most existing, large-scale gene expression data sets, including publicly available data from the Genome-Tissue Expression Project, are from white men,” said Fernández-Rhodes. “Our last study showed that including more diversity in genetic studies can improve researchers’ ability to detect and interpret the function of genes that are important to specific diseases. The data from the new study will create a resource for researchers who study a wide variety of health problems, in populations all around the world.”

The work will not only benefit Hispanic populations, said the researchers. The research is expected to identify genetic markers associated with increased risk of stroke and heart attack that are found in more than 5% of people in most human populations. Once the genetic markers are identified, the researchers will look for their relevance for other health conditions and will use the gene-expression-data resource to interpret the functional impact of these markers on people’s health.

“"Promoting studies of ancestrally or otherwise diverse populations not only addresses the gap between who is being studied and who should be studied, it also can benefit public health,” Graff said. “For example, early studies of African Americans documented several variants that decreased heart disease, which then led to the development of PCSK9 inhibitors for high LDL cholesterol. We believe that this research has similar potential."