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NOS1AP is a Genetic Modifier of the Long-QT Syndrome

更新时间:2012-6-29:  来源:毕业论文

1,2,3 4,5 3
Lia Crotti, M.D., Ph.D. , Maria Cristina Monti, Ph.D. , Roberto Insolia, B.Sc. , Anna
5 6 7 5
Peljto, M.S. , Althea Goosen, B.Sc. , Paul A. Brink, M.D. , David A. Greenberg, Ph.D. , Peter
1,2,3,7,8,9,* 10,11,12,*
J. Schwartz, M.D. , and Alfred L. George Jr., M.D.
1本文来自六.维,论-文·网原文请找腾讯324.9114
Section of Cardiology, Department of Lung, Blood and Heart, University of Pavia, Pavia, Italy
2
Department of Cardiology, IRCCS Fondazione Policlinico S. Matteo, Pavia, Italy
3
Molecular Cardiology Laboratory, IRCCS Fondazione Policlini论文范文http://www.chuibin.com/  co S. Matteo, Pavia, Italy
4
Department of Heath Sciences, University of Pavia, Pavia, Italy
5
Division of Statistical Genetics, Department of Biostatistics, Mailman School of Public Health, and
Psychiatry Department, Columbia University Medical Center, New York, NY
6
US/MRC Centre for Molecular and Cellular Biology, University of Stellenbosch, South Africa
7
Department of Internal Medicine, University of Stellenbosch, South Africa
8
Laboratory of Cardiovascular Genetics, IRCCS Istituto Auxologico, Milan, Italy
9
Cardiovascular Genetics Laboratory, Hatter Institute for Cardiovascular Research, University of
Cape Town, Cape Town, South Africa
10
Department of Medicine, Vanderbilt University, Nashville, TN
11
Department of Pharmacology, Vanderbilt University, Nashville, TN
12本文来自六.维,论-文·网原文请找腾讯3249.114
Institute for Integrative Genomics, Vanderbilt University, Nashville, TN
Abstract
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 associated with the QT interval duration in the general population.
Methods and Results—We tested the hypothesis that common variants in NOS1AP modify the
risk of clinical manifestations and the degree of QT interval prolongation in a South African LQTS
population (500 subjects, 205 mutation carriers) segregating a founder mutation in KCNQ1 (A341V)2494

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