NOS1AP Is a Genetic Modifier of the Long-QT Syndrome

• Published in: Circulation (New York, N.Y.) Vol. 120; no. 17; pp. 1657 - 1663
• Main Authors: Crotti, Lia, Monti, Maria Cristina, Insolia, Roberto, Peljto, Anna, Goosen, Althea, Brink, Paul A., Greenberg, David A., Schwartz, Peter J., George, Alfred L.
• Format: Journal Article
• Language: English
• Published: Hagerstown, MD Lippincott Williams & Wilkins 27.10.2009
• Subjects: Adaptor Proteins, Signal Transducing - genetics; Arrhythmias, Cardiac - genetics; Biological and medical sciences; Blood and lymphatic vessels; Cardiology. Vascular system; Death, Sudden; Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous; Female; Genetic Markers - genetics; Genetic Variation - genetics; Humans; Long QT Syndrome - diagnosis; Long QT Syndrome - genetics; Male; Medical sciences; Mutation; Risk Factors; Sarcoidosis. Granulomatous diseases of unproved etiology. Connective tissue diseases. Elastic tissue diseases. Vasculitis; Human; Arrhythmia; Enzyme; Prolonged QT interval; Cardiovascular disease; Conduction disorder; Nitric-oxide synthase; long-QT syndrome; genetics; Heart block; Heart disease; Oxidoreductases; nitric oxide synthase; KCNQ1 protein, human

Background— In congenital long-QT syndrome (LQTS), a genetically heterogeneous disorder that predisposes to sudden cardiac death, genetic factors other than the primary mutation may modify the probability of life-threatening events. Recent evidence indicates that common variants in NOS1AP are associ...