A common genetic variant in the NOS1 regulator NOS1AP modulates cardiac repolarization

Nature Genetics

Volumn 38, Issue 6, 2006, Pages 644-651

  Arking, Dan E ^a   Pfeufer, Arne ^b,c   Post, Wendy ^a,d   Kao, W H Linda ^d   Newton Cheh, Christopher ^e,f,g   Ikeda, Morna ^a   West, Kristen ^a   Kashuk, Carl ^a   Akyol, Mahmut ^b,c   Perz, Siegfried ^c   Jalilzadeh, Shapour ^b,c   Illig, Thomas ^c   Gieger, Christian ^c   Guo, Chao Yu ^e,h   Larson, Martin G ^e,h   Wichmann, H Erich ^c,i   Marbán, Eduardo ^a   O'Donnell, Christopher J ^e,f,g   Hirschhorn, Joel N ^f,j,k   Kääb, Stefan ⁱ   Spooner, Peter M ^a   Meitinger, Thomas ^b,c   Chakravarti, Aravinda ^a   more..

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^c INSTITUTE OF EPIDEMIOLOGY   (Germany)

^d JOHNS HOPKINS BLOOMBERG SCHOOL OF PUBLIC HEALTH   (United States)

^e FRAMINGHAM HEART STUDY   (United States)

^f BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^g MASSACHUSETTS GENERAL HOSPITAL   (United States)

^h Boston University   (United States)

ⁱ UNIVERSITY OF MUNICH   (Germany)

^j BOSTON CHILDREN S HOSPITAL   (United States)

^k HARVARD MEDICAL SCHOOL   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

HIGH DENSITY LIPOPROTEIN CHOLESTEROL; NEURONAL NITRIC OXIDE SYNTHASE;

ADULT; AGED; ARTICLE; CAUCASIAN; FEMALE; FOLLOW UP; GENE LINKAGE DISEQUILIBRIUM; GENE MAPPING; GENETIC VARIABILITY; GENOTYPE; GERMANY; HEART REPOLARIZATION; HUMAN; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; QT INTERVAL; QUANTITATIVE TRAIT; QUANTITATIVE TRAIT LOCUS; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL ANALYSIS; SUDDEN DEATH;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; COHORT STUDIES; GENOME, HUMAN; HUMANS; NITRIC OXIDE SYNTHASE TYPE I; POLYMORPHISM, SINGLE NUCLEOTIDE; QUANTITATIVE TRAIT LOCI; VARIATION (GENETICS);

EID: 33745237158     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1790     Document Type: Article

References (45)

1. Busjahn, A. et al. QT interval is linked to 2 long-QT syndrome loci in normal subjects. Circulation 99, 3161-3164 (1999).
2. Carter, N. et al. QT interval in twins. J. Hum. Hypertens. 14, 389-390 (2000).
3. Newton-Cheh, C. et al. QT interval is a heritable quantitative trait with evidence of linkage to chromosome 3 in a genome-wide linkage analysis: The Framingham Heart Study. Heart Rhythm 2, 277-284 (2005).
4. Schouten, E.G. et al. QT interval prolongation predicts cardiovascular mortality in an apparently healthy population. Circulation 84, 1516-1523 (1991).
5. Dekker, J.M., Schouten, E.G., Klootwijk, P., Pool, J. & Kromhout, D. Association between QT interval and coronary heart disease in middle-aged and elderly men. The Zutphen Study. Circulation 90, 779-785 (1994).
6. Elming, H. et al. The prognostic value of the QT interval and QT interval dispersion in all-cause and cardiac mortality and morbidity in a population of Danish citizens. Eur. Heart J. 19, 1391-1400 (1998).
7. Sharp, D.S., Masaki, K., Burchfiel, C.M., Yano, K. & Schatz, I.J. Prolonged QTc interval, impaired pulmonary function, and a very lean body mass jointly predict all-cause mortality in elderly men. Ann. Epidemiol. 8, 99-106 (1998).
8. de Bruyne, M.C. et al. Prolonged QT interval predicts cardiac and all-cause mortality in the elderly. The Rotterdam Study. Eur. Heart J. 20, 278-284 (1999).
9. Okin, P.M. et al. Assessment of QT interval and QT dispersion for prediction of all-cause and cardiovascular mortality in American Indians: the Strong heart study. Circulation 101, 61-66 (2000).
10. Dekker, J.M., Crow, R.S., Hannan, P.J., Schouten, E.G. & Folsom, A.R. Heart rate-corrected QT interval prolongation predicts risk of coronary heart disease in black and white middle-aged men and women: the ARIC study. J. Am. Coll. Cardiol. 43, 565-571 (2004).
11. Priori, S.G. & Napolitano, C. Genetics of cardiac arrhythmias and sudden cardiac death. Ann. NY Acad. Sci. 1015, 96-110 (2004).
12. Yang, P. et al. Allelic variants in long-QT disease genes in patients with drug-associated torsades de pointes. Circulation 105, 1943-1948 (2002).
13. Splawski, I. et al. Variant of SCN5A sodium channel implicated in risk of cardiac arrhythmia. Science 297, 1333-1336 (2002).
14. Perz, S. et al. Does computerized ECG analysis provide sufficiently consistent QT interval estimates for genetic research? in Analysis of Biomedical Signals and Images Vol. 17 (eds. Jan, J., Kozumplik, J. and Provaznik, I.) 47-49 (VUTIUM Press, Brno, Czech Republic, 2004).
15. Emison, E.S. et al. A common sex-dependent mutation in a RET enhancer underlies Hirschsprung disease risk. Nature 434, 857-863 (2005).
16. Klein, R.J. et al. Complement factor H polymorphism in age-related macular degeneration. Science 308, 385-389 (2005).
17. Haines, J.L. et al. Complement factor H variant increases the risk of age-related macular degeneration. Science 308, 419-421 (2005).
18. Edwards, A.O. et al. Complement factor H polymorphism and age-related macular degeneration. Science 308, 421-424 (2005).
19. Robertson, A. The nature of quantitative genetic variation, in Heritage from Mendel (ed. Brink, R.A.) 265-280 (Univ. of Wisconsin Press, Madison, Wisconsin, 1967).
20. Risch, N.J. & Zhang, H. Mapping quantitative trait loci with extreme discordant sib pairs: sampling considerations. Am. J. Hum. Genet. 58, 836-843 (1996).
21. Cohen, J.C. et al. Multiple rare alleles contribute to low plasma levels of HDL cholesterol. Science 305, 869-872 (2004).
22. Pfeufer, A. et al. Common variants in myocardial ion channel genes modify the QT interval in the general population: results from the KORA study. Circ. Res. 96, 693-701 (2005).
23. Bezzina, C.R. et al. A common polymorphism in KCNH2 (HERG) hastens cardiac repolarization. Cardiovasc. Res. 59, 27-36 (2003).
24. Satagopan, J.M., Venkatraman, E.S. & Begg, C.B. Two-stage designs for gene-disease association studies with sample size constraints. Biometrics 60, 589-597 (2004).
25. Boerwinkle, E., Chakraborty, R. & Sing, C.F. The use of measured genotype information in the analysis of quantitative phenotypes in man. I. Models and analytical methods. Ann. Hum. Genet. 50, 181-194 (1986).
26. Page, G.P. & Amos, C.I. Comparison of linkage-disequilibrium methods for localization of genes influencing quantitative traits in humans. Am. J. Hum. Genet. 64, 1194-1205 (1999).
27. Skol, A.D., Scott, L.J., Abecasis, G.R. & Boehnke, M. Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat. Genet. 38, 209-213 (2006).
28. Jaffrey, S.R., Snowman, A.M., Eliasson, M.J., Cohen, N.A. & Snyder, S.H. CAPON: a protein associated with neuronal nitric oxide synthase that regulates its interactions with PSD95. Neuron 20, 115-124 (1998).
29. De Jongh, K.S., Warner, C. & Catterall, W.A. Subunits of purified calcium channels. Alpha 2 and delta are encoded by the same gene. J. Biol. Chem. 265, 14738-14741 (1990).
30. Klugbauer, N., Marais, E. & Hofmann, F. Calcium channel alpha2delta subunits: differential expression, function, and drug binding. J. Bioenerg. Biomembr. 35, 639-647 (2003).
31. Burge, C. & Karlin, S. Prediction of complete gene structures in human genomic DNA. J. Mol. Biol. 268, 78-94 (1997).
32. Lesage, F. et al. TWIK-1, a ubiquitous human weakly inward rectifying K+ channel with a novel structure. EMBO J. 15, 1004-1011 (1996).
33. Fang, M. et al. Dexras1: a G protein specifically coupled to neuronal nitric oxide synthase via CAPON. Neuron 28, 183-193 (2000).
34. Massion, P.B., Pelat, M., Belge, C. & Balligand, J.L. Regulation of the mammalian heart function by nitric oxide. Comp. Biochem. Physiol. A Mol. Integr. Physiol. 142, 144-150 (2005).
35. Khan, S.A. et al. Neuronal nitric oxide synthase negatively regulates xanthine oxidoreductase inhibition of cardiac excitation-contraction coupling. Proc. Natl. Acad. Sci. USA 101, 15944-15948 (2004).
36. Murata, M. et al. SAP97 interacts with Kv1.5 in heterologous expression systems. Am. J. Physiol. Heart Circ. Physiol. 281, H2575-H2584 (2001).
37. Leonoudakis, D., Mailliard, W., Wingerd, K., Clegg, D. & Vandenberg, C. Inward rectifier potassium channel Kir2.2 is associated with synapse-associated protein SAP97. J. Cell Sci. 114, 987-998 (2001).
38. Kim, E. & Sheng, M. Differential K+ channel clustering activity of PSD-95 and SAP97, two related membrane-associated putative guanylate kinases. Neuropharmacology 35, 993-1000 (1996).
39. The International HapMap Consortium. A haplotype map of the human genome. Nature 437, 1299-1320 (2005).
40. Wichmann, H.E., Gieger, C. & Illig, T. KORA-gen-resource for population genetics, controls and a broad spectrum of disease phenotypes. Gesundheitswesen 67 (Suppl.), S26-S30 (2005).
41. Mortara, D.W. Source consistency filtering. Application to resting ECGs. J. Electrocardiol. 25 (Suppl.), 200-206 (1992).
42. Bailey, J.J. et al. Recommendations for standardization and specifications in automated electrocardiography: bandwidth and digital signal processing. A report for health professionals by an ad hoc writing group of the Committee on Electrocardiography and Cardiac Electrophysiology of the Council on Clinical Cardiology, American Heart Association. Circulation 81, 730-739 (1990).
43. Matsuzaki, H. et al. Genotyping over 100,000 SNPs on a pair of oligonucleotide arrays. Nat. Methods 1, 109-111 (2004).
44. Weir, B. Genetic Data Analysis II (Sinauer Associates, Cumberland, Massachusetts, 1996).
45. Siepel, A. et al. Evolutionary conserved elements in vertebrate, insect, worm, and yeast genomes. Genome Res. 15, 1034-1050 (2005).