Evaluation of non-synonymous NPPA single nucleotide polymorphisms in atrial fibrillation

Europace

Volumn 12, Issue 8, 2010, Pages 1078-1083

  Roberts, Jason D ^a   Davies, Robert W ^a   Lubitz, Steven A ^b,c   Thibodeau, Isabelle L ^a   Nery, Pablo B ^a   Birnie, David H ^a   Benjamin, Emelia J ^d,e,f   Lemery, Robert ^a   Ellinor, Patrick T ^b   Gollob, Michael H ^a  

^a UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c BRIGHAM AND WOMEN S HOSPITAL   (United States)

^d FRAMINGHAM HEART STUDY   (United States)

^e BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f BOSTON UNIVERSITY SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

Atrial fibrillation; Atrial natriuretic peptide; Genetics; Single nucleotide polymorphism

Indexed keywords

ATRIAL NATRIURETIC FACTOR; GENOMIC DNA; NATRIURETIC PEPTIDE RECEPTOR A;

ADULT; AGED; ARTICLE; CONTROLLED STUDY; DNA MICROARRAY; EUROPEAN AMERICAN; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; GENETIC PREDISPOSITION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEART ATRIUM FIBRILLATION; HUMAN; INHERITANCE; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; AGED; ATRIAL FIBRILLATION; ATRIAL NATRIURETIC FACTOR; CASE-CONTROL STUDIES; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; NORTH AMERICA; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN PROCESSING, POST-TRANSLATIONAL;

EID: 77955181636     PISSN: 10995129     EISSN: 15322092     Source Type: Journal    
DOI: 10.1093/europace/euq161     Document Type: Article

References (42)

1. Chugh SS, Blackshear JL, Shen WK, Hammill SC, Gersh BJ. Epidemiology and natural history of atrial fibrillation: clinical implications. J Am Coll Cardiol 2001; 37:371-378
2. Lloyd-Jones DM, Wang TJ, Leip EP, Larson MG, Levy D, Vasan RS et al. Lifetime risk for development of atrial fibrillation: the Framingham Heart Study. Circulation 2004;110:1042-1046 (Pubitemid 39319000)
3. Miyasaka Y, Barnes ME, Gersh BJ, Cha SS, Bailey KR, Abhayaratna WP et al. Secular trends in incidence of atrial fibrillation in Olmsted County, Minnesota, 1980-2000, and implications on the projections for future prevalence. Circulation 2006;114:119-125
4. Benjamin EJ, Wolf PA, D'Agostino RB, Silbershatz H, Kannel WB, Levy D. Impact of atrial fibrillation on the risk of death: the Framingham Heart Study. Circulation 1998;98:946-952
5. Wolf PA, Abbott RD, Kannel WB. Atrial fibrillation as an independent risk factor for stroke: the Framingham Study. Stroke 1991;22:983-988
6. Fox CS, Parise H, D'Agostino RB Sr, Lloyd-Jones DM, Vasan RS, Wang TJ et al. Parental atrial fibrillation as a risk factor for atrial fibrillation in offspring. J Am Med Assoc 2004;291:2851-2855
7. Arnar DO, Thorvaldsson S, Manolio TA, Thorgeirsson G, Kristjansson K, Hakonarson H et al. Familial aggregation of atrial fibrillation in Iceland. Eur Heart J 2006;27:708-712
8. Ellinor PT, Yoerger DM, Ruskin JN, MacRae CA. Familial aggregation in lone atrial fibrillation. Hum Genet 2005;188:179-184
9. Christophersen IE, Ravn LS, Budtz-Joergensen E, Skytthe A, Haunsoe S, Svendsen JH et al. Familial aggregation of atrial fibrillation: a study in Danish twins. Circ Arrhythm Electrophysiol 2009;2:378-383
10. Chen YH, Xu WJ, Bendahhou S, Wang XL, Wang Y, Xu WY et al. KCNQ1 gain-of-function mutation in familial atrial fibrillation. Science 2003;299:251-254
11. Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y et al. Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation. Am J Hum Genet 2004;75:899-905.
12. Xia M, Jin Q, Bendahhaou S, He Y, Larroque MM, Chen Y et al. A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation. Biochem Biophys Res Commun 2005;332:1012-1019
13. Ellinor PT, Nam EG, Shea MA, Milan DJ, Ruskin JN, MacRae CA. Cardiac sodium channel mutation in atrial fibrillation. Heart Rhythm 2008;5:99-105.
14. Darbar D, Kannankeril PJ, Donahue BS, Kucera G, Stubblefield T, Haines JL et al. Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation 2008;117:1927-1935.
15. Makiyama T, Akao M, Shizuta S, Doi T, Nishiyama K, Oka Y et al. A novel SCN5A gain-of-function mutation M1875T associated with familial atrial fibrillation. J Am Coll Cardiol 2008;52:1326-1334
16. v1.5 in atrial fibrillation enhances cellular excitability and lowers the threshold for action potential firing. Biochem Biophys Res Commun 2009;380: 132-137
17. Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q et al. Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation. N Engl J Med 2006;354:2677-2688
18. Ellinor PT, Lunetta KL, Glazer NL, Pfeufer A, Alonso A, Chung MK et al. Common variants in KCNN3 are associated with lone atrial fibrillation. Nat Genet 2010;42: 240-244
19. Gudbjartsson DF, Arnar DO, Helgadottir A, Gretarsdottir S, Holm H, Sigurdsson A et al. Variants conferring risk of atrial fibrillation on chromosome 4q25. Nature 2007;448:353-357
20. Benjamin EJ, Rice KM, Arking DE, Pfeufer A, van Noord C, Smith AV et al. Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry. Nat Genet 2009;41:879-881
21. Gudbjartsson DF, Holm H, Gretarsdottir S, Thorleifsson G, Walters GB, Thorgeirsson G et al. A sequence variant in ZFHX3 on 16q22 associates with atrial fibrillation and ischemic stroke. Nat Genet 2009;41:876-878
22. Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ et al. Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation. N Engl J Med 2008;359:158-165
23. Patton KK, Ellinor PT, Heckbert SR, Christenson RH, DeFilippi C, Gottdiener JS et al. N-terminal pro-B-type natriuretic peptide is a major predictor of the development of atrial fibrillation. The Cardiovascular Health Study. Circulation 2009; 120:1768-1774
24. Schnabel RB, Larson MG, Yamamoto JF, Sullivan LM, Pencina MJ, Meigs JB et al. Relations of biomarkers of distinct pathophysiological pathways and atrial fibrillation incidence in the community. Circulation 2010;121:200-207
25. Conen D, Glynn RJ, Buring JE, Ridker PM, Zee RY. Natriuretic Peptide Precursor A gene polymorphisms and risk of blood pressure progression and incident hypertension. Hypertension 2007;50:1114-1119
26. Conen D, Cheng S, Steiner LL, Buring JE, Ridker PM, Zee RY. Association of 77 polymorphisms in 52 candidate genes with blood pressure progression and incident hypertension: the Women's Genome Health Study. J Hypertens 2009;27: 476-483
27. Rubattu S, Ridker P, Stampfer MJ, Volpe M, Hennekens CH, Lindpaintner K. The gene encoding atrial natriuretic peptide and the risk of human stroke. Circulation 1999;100:1722-1726
28. Rubattu S, Stanzione R, Di Angelantonio E, Zanda B, Evangelista A, Tarasi D. Atrial natriuretic peptide gene polymorphisms and risk of ischemic stroke in humans. Stroke 2004;35:814-818
29. Ren X, Xu C, Zhan C, Yang Y, Shi L, Wang F et al. Identification of NPPA variants associated with atrial fibrillation in a Chinese GeneID population. Clin Chim Acta 2010;411:481-485
30. Stewart AF, Dandona S, Chel L, Assogba O, Belanger M, Ewart G et al. Kinesin family member 6 variant Trp719Arg does not associate with angiographically defined coronary artery disease in the Ottawa Heart Genomics Study. J Am Coll Cardiol 2009;53:1471-1472
31. Dawber TR, Meadors GF, Moore FE Jr. Epidemiological approaches to heart disease: the Framingham Study. Am J Public Health Nations Health 1951;41:279-281
32. Kannel WB, Feinleib M, McNamara PM, Garrison RJ, Castelli WP. An investigation of coronary heart disease in families. The Framingham offspring study. Am J Epidemiol 1979;110:281-290
33. Splansky GL, Corey D, Yang Q, Atwood LD, Cupples LA, Benjamin EJ et al. The third generation cohort of the National Heart, Lung, and Blood Institute's Fra-mingham Heart Study: design, recruitment, and initial examination. Am J Epidemiol 2007;165:1328-1335
34. Masharain U, Nakashima PF, Lim DW, Frossard PM. Nsi I and Sca I restriction fragment length polymorphisms at the atrial natriuretic peptide (ANP) gene locus. Hum Genet 1988;80:307.
35. DerSimonian R, Laird N. Meta-analysis in clinical trials. Control Clin Trials 1986;7: 177-188
36. R Development Core Team. R: A Language and Environment for Statistical Computing. Vienna, Austria: R Foundation for Statistical Computing; 2007. ISBN 3-900051-07-0, URL http://www.R-project.org.
37. Purcell S, Cherny SS, Sham PC. Genetic power calculator: design of linkage and association genetic mapping studies of complex traits. Bioinformatics 2003;19: 149-150
38. The International HapMap Consortium. A second generation human haplotype map of over 3.1 million SNPs. Nature 2007;449:851-861
39. Hirschhorn JN, Lohmueller K, Byrne E, Hirschhorn K. A comprehensive review of genetic association studies. Genet Med 2002;4:45-61.
40. Roberts JD, Gollob MH. Impact of genetic discoveries on the classification of lone atrial fibrillation. J Am Coll Cardiol 2010;55:705-712
41. Schnabel RB, Sullivan LM, Levy D, Pencina MJ, Massaro JM, D'Agostino RB et al. Development of a risk score for atrial fibrillation (Framingham Heart Study): a community-based cohort study. Lancet 2009;373:739-745
42. Vesely DL. Atrial Natriuretic Hormones. Englewood Cliffs, NJ: Prentice Hall; 1992.