Nathan Stitziel, MD, PhD

Associate Professor
Internal Medicine

Human and Statistical Genetics Program
Molecular Genetics and Genomics Program
Computational and Systems Biology Program
Biomedical Informatics and Data Science Program

  • 314 747-8394

  • 314 747-8170

  • CSRB 9903/9905



  • Human genetics; cardiovascular disease

  • We try understand the inherited basis underlying cardiovascular disease and leverage insights from our work to improve patient care.

Research Abstract:

To understand the genetic basis for cardiovascular disease and to leverage insights from this work to improve patient care. Using a multidisciplinary approach that combines next-generation genetic techniques with detailed human physiology studies and classic model systems approaches, we study both Mendelian and complex forms of cardiovascular disease.

Major current research questions include:
1) What is the genetic architecture underlying the heritability of coronary artery disease and related risk factors?
2) What are the mechanisms in non-lipid genes and pathways that cause coronary artery disease?
3) What are the genes and mechanisms underlying novel forms of Mendelian cardiovascular disease?
4) Can human genetics be used to accelerate therapeutic development by anticipating the safety and efficacy of inhibitory drugs?

Selected Publications:

Lee VS, Halabi CM, Hoffman E, Carmichael N, Leshchiner I, Lian CG, Bierhals AJ, Vuzman D, Mecham RP, Frank NY, Stitziel NO. Loss of function mutation in LOX causes thoracic aortic aneurysm and dissection in humans. Proc Natl Acad Sci 113: 8759-64 (2016).

Zanoni P, Khetarpal SA, Larach DB, Hancock-Cerutti WF, Millar JS, Cuchel M, DerOhannessian S, Kontush A, Surendran P, Saleheen D, Trompet S, Jukema JW, De Craen A, Deloukas P, Sattar N, Ford I, Packard C, al Shafi Majumder A, Alam DS, Di Angelantonio E, Abecasis G, Chowdhury R, Erdmann J, Nordestgaard BG, Nielsen SF, Tybjærg-Hansen A, Schmidt RF, Kuulasmaa K, Liu D, Perola M, Blankenberg S, Salomaa V, Männistö S, Amouyel P, Arveiler D, Ferrieres J, Müller-Nurasyid M, Ferrario M, Kee F, Willer CJ, Samani N, Schunkert H, Butterworth AS, Howson JM, Peloso GM, Stitziel NO, Danesh J, Kathiresan S, Rader DJ. Rare Variant in Scavenger Receptor BI Raises HDL Cholesterol and Increases Risk of Coronary Heart Disease. Science 351: 1166-71 (2016).

Stitziel NO, Stirrups KE, Masca NG, Erdmann J, Ferrario PG, König IR, et al. Coding variation in ANGPTL4, LPL, and SVEP1 and the risk of coronary disease. N Engl J Med 374: 1134-44 (2016).

Stitziel NO, Peloso GM, Abifadel M, Cefalù AB, Fouchier S, Motazacker MM, et al. Exome Sequencing in Suspected Monogenic Dyslipidemias. Circ Cardiovasc Genet 8: 343-50 (2015).

Do R, Stitziel NO, Won H-H, Jørgensen AB, Duga S, Merlini PA, et al. Multiple rare alleles at LDLR and APOA5 confer risk for early-onset myocardial infarction. Nature 518: 102-6 (2015).

Mega JL, Stitziel NO, Smith JG, Chasman DI, Caulfield M, Devlin JJ, et al. Genetic Risk, Coronary Heart Disease Events, and the Clinical Benefit of Statin Therapy. Lancet 385: 2264-71 (2015).

Last Updated: 7/24/2018 2:15:26 PM

Back To Top

Follow us: