Event Title

Identifying Variants in the Regulatory Region of the CTGF gene and Association to Family History of Cardiovascular Disease

Faculty Sponsor(s)

Heather Doherty

Abstract

Heart disease is the leading cause of death in the United States. After a heart attack, cardiac tissue becomes damaged and the subsequent repair often results in scarring and poor heart function. Connective Tissue Growth Factor (CTGF) is a gene known to be involved in healthy wound healing and increased CTGF expression is a known inducer of scarring. The promoter region of CTGF is of particular interest because this is the region of a gene that controls gene expression. Variants in the promoter regulatory region of CTGF have already been shown to alter the expression of CTGF. Cheek cells were collected from volunteers in the PSU population. DNA was extracted, sequenced, and analyzed for genetic variants. Volunteers also completed a survey about heart disease-related family history. Through targeted sequencing, we have identified two variants. No associations were statistically significant with the strongest correlation being between variant G-449C and family history of a heart attack before age 65. A lack of statistically significant associations may be due to the small sample size (n=18). Sequencing a larger sample may give us the statistical power to provide further insight into understanding genetic predispositions to scarring.

Location

Hartman Union Building Courtroom

Start Date

5-2-2019 3:00 PM

End Date

5-2-2019 4:00 PM

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May 2nd, 3:00 PM May 2nd, 4:00 PM

Identifying Variants in the Regulatory Region of the CTGF gene and Association to Family History of Cardiovascular Disease

Hartman Union Building Courtroom

Heart disease is the leading cause of death in the United States. After a heart attack, cardiac tissue becomes damaged and the subsequent repair often results in scarring and poor heart function. Connective Tissue Growth Factor (CTGF) is a gene known to be involved in healthy wound healing and increased CTGF expression is a known inducer of scarring. The promoter region of CTGF is of particular interest because this is the region of a gene that controls gene expression. Variants in the promoter regulatory region of CTGF have already been shown to alter the expression of CTGF. Cheek cells were collected from volunteers in the PSU population. DNA was extracted, sequenced, and analyzed for genetic variants. Volunteers also completed a survey about heart disease-related family history. Through targeted sequencing, we have identified two variants. No associations were statistically significant with the strongest correlation being between variant G-449C and family history of a heart attack before age 65. A lack of statistically significant associations may be due to the small sample size (n=18). Sequencing a larger sample may give us the statistical power to provide further insight into understanding genetic predispositions to scarring.