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Association study of mitochondrial genome and cardiovascular disease

Wei, Ruipeng
http://rave.ohiolink.edu/etdc/view?acc_num=case1554479244080773

Abstract Details

2019, Master of Sciences, Case Western Reserve University, Systems Biology and Bioinformatics.
Though mitochondrial dysfunction is believed to be a core component of cardiovascular disease (CVD), studies focusing on the relationship between mtDNA and CVD are still very few. Our study includes 996 high-coverage whole genome sequencing (WGS) blood samples of CVD patients from the Cleveland Clinic. As control datasets, we use 1045 WGS samples from NHLBI TOPMed and 907 WGS samples from 1000Genome Phase I. Our results show that mtDNA CN is statistically significantly lower in patients who have certain clinical features. Regarding mtDNA variants, specific variant alleles at base position 2442 (T>C) and 16261 (C>T) are enriched in cases and controls, respectively. Our study represents the first large-scale comprehensive assessment of the mitochondrial genome of CVD patients and provides a framework for extensive analysis of big data from the mtDNA sequence of large cohorts of human disease cases.
LaFramboise Thomas, Dr. (Advisor)
Koyutürk Mehmet , Dr. (Committee Chair)
Bush William, Dr. (Committee Member)
Bioinformatics; Genetics
mitochondrial genome, cardiovascular disease, association study

Recommended Citations

Citations

  • Wei, R. (2019). Association study of mitochondrial genome and cardiovascular disease [Master's thesis, Case Western Reserve University]. OhioLINK Electronic Theses and Dissertations Center. http://rave.ohiolink.edu/etdc/view?acc_num=case1554479244080773

    APA Style (7th edition)

  • Wei, Ruipeng. Association study of mitochondrial genome and cardiovascular disease. 2019. Case Western Reserve University, Master's thesis. OhioLINK Electronic Theses and Dissertations Center, http://rave.ohiolink.edu/etdc/view?acc_num=case1554479244080773.

    MLA Style (8th edition)

  • Wei, Ruipeng. "Association study of mitochondrial genome and cardiovascular disease." Master's thesis, Case Western Reserve University, 2019. http://rave.ohiolink.edu/etdc/view?acc_num=case1554479244080773

    Chicago Manual of Style (17th edition)

case1554479244080773
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This open access ETD is published by Case Western Reserve University School of Graduate Studies and OhioLINK.