Event Title

Detecting Variants in the Promoter Region of the Connective Tissue Growth Factor Gene

Faculty Sponsor(s)

Heather Doherty

Location

Hartman Union Building Courtroom

Presentation Type

Event

Start Date

5-3-2018 2:00 PM

End Date

5-3-2018 3:00 PM

Abstract

Cardiovascular disease is the leading cause of death in the United States. After a heart attack, cardiovascular tissue becomes damaged, and the subsequent repair often results in scarring of the heart and poor cardiac function. Connective Tissue Growth Factor (CTGF) is a gene known to be involved in healthy wound healing and tissue repair, and increased CTGF expression causes scarring. The promoter region of CTGF is of particular interest because changes in this region are most likely to cause overexpression and result in scarring of cardiac tissue. Cheek cells were collected from volunteers in the PSU population. DNA was extracted, sequenced and analyzed for genetic variants. Volunteers also completed a family history survey about cardiovascular disease-related risks which was used to calculate a family history risk score. Through targeted sequencing, we have identified two variants in the promoter region of CTGF. Correlation of promoter variants to family history scores will be performed following further sequencing. Understanding possible genetic predispositions to scarring and the mechanisms underlying the role of CTGF in cardiac fibrosis will allow targeting of treatment to those most at risk after a heart attack.

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May 3rd, 2:00 PM May 3rd, 3:00 PM

Detecting Variants in the Promoter Region of the Connective Tissue Growth Factor Gene

Hartman Union Building Courtroom

Cardiovascular disease is the leading cause of death in the United States. After a heart attack, cardiovascular tissue becomes damaged, and the subsequent repair often results in scarring of the heart and poor cardiac function. Connective Tissue Growth Factor (CTGF) is a gene known to be involved in healthy wound healing and tissue repair, and increased CTGF expression causes scarring. The promoter region of CTGF is of particular interest because changes in this region are most likely to cause overexpression and result in scarring of cardiac tissue. Cheek cells were collected from volunteers in the PSU population. DNA was extracted, sequenced and analyzed for genetic variants. Volunteers also completed a family history survey about cardiovascular disease-related risks which was used to calculate a family history risk score. Through targeted sequencing, we have identified two variants in the promoter region of CTGF. Correlation of promoter variants to family history scores will be performed following further sequencing. Understanding possible genetic predispositions to scarring and the mechanisms underlying the role of CTGF in cardiac fibrosis will allow targeting of treatment to those most at risk after a heart attack.