Genetic variants in the CTGF gene associated with a family history of heart disease

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Student Showcase of Research & Engagement Spring 2019
Shattuck, Leo
Mozier, Jacob
Towsend, Michael
A person in the United States suffers from a heart-related incident every minute. Damage sustained during a heart attack can cause chronic health problems, heart failure, and death. Connective Tissue Growth Factor (CTGF) is a gene that coordinates repair of damaged tissue after a heart attack. When there is too much CTGF, faulty repair can occur causing scarring and decreased heart function. The aim of this research is to determine if CTGF genetic variants correlate with a family history of heart disease. Cheek cells were collected from PSU volunteers and DNA was sequenced to find genetic variants. Volunteers also completed a survey recording family history of heart disease-related incidents or conditions. A Kendall's Tau b test was used to correlate the presence of genetic variants and survey data. One variant, C156T, correlated to an increased family history of heart disease (p-value < 0.001). In the PSU population, we found 17 variants, 6 of which are novel. Finding new variants indicates that small resequencing efforts can lead to the discovery of previously unknown human genetic diversity. Investigating the relationship between CTGF genetic variation and family history of heart disease may help discover genetic variation that influences scarring.