메뉴 건너뛰기




Volumn 8, Issue 1, 2015, Pages 58-63

Examining rare and low-frequency genetic variants previously associated with lone or familial forms of atrial fibrillation in an electronic medical record system: A cautionary note

Author keywords

Atrial fibrillation; Exome; Genetic association studies; Genetics; Genome wide association study; Polymorphism, single nucleotide

Indexed keywords

ADULT; AGED; ARTICLE; ELECTRONIC MEDICAL RECORD; EXOME; FEMALE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC LINKAGE; GENETIC VARIABILITY; GENOTYPE; HEART ATRIUM FIBRILLATION; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; SINGLE NUCLEOTIDE POLYMORPHISM; ATRIAL FIBRILLATION; BLACK PERSON; COHORT ANALYSIS; FACTUAL DATABASE; GENETICS; REGISTER; VERY ELDERLY;

EID: 84924623150     PISSN: 1942325X     EISSN: 19423268     Source Type: Journal    
DOI: 10.1161/CIRCGENETICS.114.000718     Document Type: Article
Times cited : (10)

References (38)
  • 1
    • 0036797537 scopus 로고    scopus 로고
    • A population-based study of the long-term risks associated with atrial fibrillation: 20-Year follow-up of the Renfrew/Paisley study
    • Stewart S, Hart CL, Hole DJ, McMurray JJ. A population-based study of the long-term risks associated with atrial fibrillation: 20-year follow-up of the Renfrew/Paisley study. Am J Med. 2002;113:359-364.
    • (2002) Am J Med , vol.113 , pp. 359-364
    • Stewart, S.1    Hart, C.L.2    Hole, D.J.3    McMurray, J.J.4
  • 2
    • 42149147897 scopus 로고    scopus 로고
    • Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation
    • 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. doi:10.1161/CIRCULATIONAHA.107.757955.
    • (2008) Circulation , vol.117 , pp. 1927-1935
    • Darbar, D.1    Kannankeril, P.J.2    Donahue, B.S.3    Kucera, G.4    Stubblefield, T.5    Haines, J.L.6
  • 3
    • 20444372298 scopus 로고    scopus 로고
    • A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation
    • Xia M, Jin Q, Bendahhou 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. doi:10.1016/j.bbrc.2005.05.054.
    • (2005) Biochem Biophys Res Commun , vol.332 , pp. 1012-1019
    • Xia, M.1    Jin, Q.2    Bendahhou, S.3    He, Y.4    Larroque, M.M.5    Chen, Y.6
  • 4
    • 77954385004 scopus 로고    scopus 로고
    • Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation
    • Posch MG, Boldt LH, Polotzki M, Richter S, Rolf S, Perrot A, et al. Mutations in the cardiac transcription factor GATA4 in patients with lone atrial fibrillation. Eur J Med Genet. 2010;53:201-203. doi:10.1016/j.ejmg.2010.03.008.
    • (2010) Eur J Med Genet , vol.53 , pp. 201-203
    • Posch, M.G.1    Boldt, L.H.2    Polotzki, M.3    Richter, S.4    Rolf, S.5    Perrot, A.6
  • 5
    • 84866917269 scopus 로고    scopus 로고
    • A KCNJ8 mutation associated with early repolarization and atrial fibrillation
    • Delaney JT, Muhammad R, Blair MA, Kor K, Fish FA, Roden DM, et al. A KCNJ8 mutation associated with early repolarization and atrial fibrillation. Europace. 2012;14:1428-1432. doi:10.1093/europace/eus150.
    • (2012) Europace , vol.14 , pp. 1428-1432
    • Delaney, J.T.1    Muhammad, R.2    Blair, M.A.3    Kor, K.4    Fish, F.A.5    Roden, D.M.6
  • 6
    • 77957268950 scopus 로고    scopus 로고
    • Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes
    • Medeiros-Domingo A, Tan BH, Crotti L, Tester DJ, Eckhardt L, Cuoretti A, et al. Gain-of-function mutation S422L in the KCNJ8-encoded cardiac K(ATP) channel Kir6.1 as a pathogenic substrate for J-wave syndromes. Heart Rhythm. 2010;7:1466-1471. doi:10.1016/j.hrthm.2010.06.016.
    • (2010) Heart Rhythm , vol.7 , pp. 1466-1471
    • Medeiros-Domingo, A.1    Tan, B.H.2    Crotti, L.3    Tester, D.J.4    Eckhardt, L.5    Cuoretti, A.6
  • 7
    • 73049088536 scopus 로고    scopus 로고
    • Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation
    • Abraham RL, Yang T, Blair M, Roden DM, Darbar D. Augmented potassium current is a shared phenotype for two genetic defects associated with familial atrial fibrillation. J Mol Cell Cardiol. 2010;48:181-190. doi:10.1016/j.yjmcc.2009.07.020.
    • (2010) J Mol Cell Cardiol , vol.48 , pp. 181-190
    • Abraham, R.L.1    Yang, T.2    Blair, M.3    Roden, D.M.4    Darbar, D.5
  • 8
    • 84866643004 scopus 로고    scopus 로고
    • High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation
    • Olesen MS, Yuan L, Liang B, Holst AG, Nielsen N, Nielsen JB, et al. High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012;5:450-459. doi:10.1161/CIRCGENETICS.111.962597.
    • (2012) Circ Cardiovasc Genet , vol.5 , pp. 450-459
    • Olesen, M.S.1    Yuan, L.2    Liang, B.3    Holst, A.G.4    Nielsen, N.5    Nielsen, J.B.6
  • 9
    • 84863230453 scopus 로고    scopus 로고
    • Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk
    • Mann SA, Otway R, Guo G, Soka M, Karlsdotter L, Trivedi G, et al. Epistatic effects of potassium channel variation on cardiac repolarization and atrial fibrillation risk. J Am Coll Cardiol. 2012;59:1017-1025.doi:10.1016/j.jacc.2011.11.039.
    • (2012) J Am Coll Cardiol , vol.59 , pp. 1017-1025
    • Mann, S.A.1    Otway, R.2    Guo, G.3    Soka, M.4    Karlsdotter, L.5    Trivedi, G.6
  • 10
    • 84875156629 scopus 로고    scopus 로고
    • Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated gene GREM2 regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythm
    • Müller II, Melville DB, Tanwar V, Rybski WM, Mukherjee A, Shoemaker MB, et al. Functional modeling in zebrafish demonstrates that the atrial-fibrillation-associated gene GREM2 regulates cardiac laterality, cardiomyocyte differentiation and atrial rhythm. Dis Model Mech. 2013;6:332-341. doi:10.1242/dmm.010488.
    • (2013) Dis Model Mech , vol.6 , pp. 332-341
    • Müller, I.I.1    Melville, D.B.2    Tanwar, V.3    Rybski, W.M.4    Mukherjee, A.5    Shoemaker, M.B.6
  • 11
    • 12544257550 scopus 로고    scopus 로고
    • Sodium channel mutations and susceptibility to heart failure and atrial fibrillation
    • Olson TM, Michels VV, Ballew JD, Reyna SP, Karst ML, Herron KJ, et al. Sodium channel mutations and susceptibility to heart failure and atrial fibrillation. JAMA. 2005;293:447-454. doi:10.1001/jama.293.4.447.
    • (2005) JAMA , vol.293 , pp. 447-454
    • Olson, T.M.1    Michels, V.V.2    Ballew, J.D.3    Reyna, S.P.4    Karst, M.L.5    Herron, K.J.6
  • 16
    • 68149165772 scopus 로고    scopus 로고
    • Variants in ZFHX3 are associated with atrial fibrillation in individuals of European ancestry
    • 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. doi:10.1038/ng.416.
    • (2009) Nat Genet , vol.41 , pp. 879-881
    • Benjamin, E.J.1    Rice, K.M.2    Arking, D.E.3    Pfeufer, A.4    Van Noord, C.5    Smith, A.V.6
  • 20
    • 77950338000 scopus 로고    scopus 로고
    • Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record
    • Ritchie MD, Denny JC, Crawford DC, Ramirez AH, Weiner JB, Pulley JM, et al. Robust replication of genotype-phenotype associations across multiple diseases in an electronic medical record. Am J Hum Genet. 2010;86:560-572. doi:10.1016/j.ajhg.2010.03.003.
    • (2010) Am J Hum Genet , vol.86 , pp. 560-572
    • Ritchie, M.D.1    Denny, J.C.2    Crawford, D.C.3    Ramirez, A.H.4    Weiner, J.B.5    Pulley, J.M.6
  • 21
    • 33846006923 scopus 로고    scopus 로고
    • Population structure and eigenanalysis
    • Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet. 2006;2:e190. doi:10.1371/journal.pgen.0020190.
    • (2006) PLoS Genet , vol.2 , pp. e190
    • Patterson, N.1    Price, A.L.2    Reich, D.3
  • 22
    • 84894387715 scopus 로고    scopus 로고
    • Atrial fibrillation: The role of common and rare genetic variants
    • Olesen MS, Nielsen MW, Haunsø S, Svendsen JH. Atrial fibrillation: the role of common and rare genetic variants. Eur J Hum Genet. 2014;22:297-306. doi:10.1038/ejhg.2013.139.
    • (2014) Eur J Hum Genet , vol.22 , pp. 297-306
    • Olesen, M.S.1    Nielsen, M.W.2    Haunsø, S.3    Svendsen, J.H.4
  • 24
    • 33846046495 scopus 로고    scopus 로고
    • Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
    • Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation. 2007;115:361-367. doi:10.1161/CIRCULATIONAHA.106.658021.
    • (2007) Circulation , vol.115 , pp. 361-367
    • Arnestad, M.1    Crotti, L.2    Rognum, T.O.3    Insolia, R.4    Pedrazzini, M.5    Ferrandi, C.6
  • 25
    • 84863556835 scopus 로고    scopus 로고
    • Broad GO; Seattle GO; NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes
    • Tennessen JA, Bigham AW, O'Connor TD, Fu W, Kenny EE, Gravel S, et al; Broad GO; Seattle GO; NHLBI Exome Sequencing Project. Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science. 2012;337:64-69. doi:10.1126/science.1219240.
    • (2012) Science , vol.337 , pp. 64-69
    • Tennessen, J.A.1    Bigham, A.W.2    O'Connor, T.D.3    Fu, W.4    Kenny, E.E.5    Gravel, S.6
  • 26
    • 84897985012 scopus 로고    scopus 로고
    • Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome
    • Weeke P, Mosley JD, Hanna D, Delaney JT, Shaffer C, Wells QS, et al. Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome. J Am Coll Cardiol. 2014;63:1430-1437. doi:10.1016/j.jacc.2014.01.031.
    • (2014) J Am Coll Cardiol , vol.63 , pp. 1430-1437
    • Weeke, P.1    Mosley, J.D.2    Hanna, D.3    Delaney, J.T.4    Shaffer, C.5    Wells, Q.S.6
  • 27
    • 84866348768 scopus 로고    scopus 로고
    • Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation
    • Ritchie MD, Rowan S, Kucera G, Stubblefield T, Blair M, Carter S, et al. Chromosome 4q25 variants are genetic modifiers of rare ion channel mutations associated with familial atrial fibrillation. J Am Coll Cardiol. 2012;60:1173-1181. doi:10.1016/j.jacc.2012.04.030.
    • (2012) J Am Coll Cardiol , vol.60 , pp. 1173-1181
    • Ritchie, M.D.1    Rowan, S.2    Kucera, G.3    Stubblefield, T.4    Blair, M.5    Carter, S.6
  • 28
    • 84891671804 scopus 로고    scopus 로고
    • Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation
    • Weeke P, Parvez B, Blair M, Short L, Ingram C, Kucera G, et al. Candidate gene approach to identifying rare genetic variants associated with lone atrial fibrillation. Heart Rhythm. 2014;11:46-52. doi:10.1016/j.hrthm.2013.10.025.
    • (2014) Heart Rhythm , vol.11 , pp. 46-52
    • Weeke, P.1    Parvez, B.2    Blair, M.3    Short, L.4    Ingram, C.5    Kucera, G.6
  • 30
    • 84897113993 scopus 로고    scopus 로고
    • Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?
    • Ploski R, Pollak A, Müller S, Franaszczyk M, Michalak E, Kosinska J, et al. Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy? Circ Res. 2014;114:e2-e5. doi:10.1161/CIRCRESAHA.114.302662.
    • (2014) Circ Res , vol.114 , pp. e2-e5
    • Ploski, R.1    Pollak, A.2    Müller, S.3    Franaszczyk, M.4    Michalak, E.5    Kosinska, J.6
  • 31
    • 84866533811 scopus 로고    scopus 로고
    • Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy
    • Chen SN, Czernuszewicz G, Tan Y, Lombardi R, Jin J, Willerson JT, et al. Human molecular genetic and functional studies identify TRIM63, encoding Muscle RING Finger Protein 1, as a novel gene for human hypertrophic cardiomyopathy. Circ Res. 2012;111:907-919. doi:10.1161/CIRCRESAHA.112.270207.
    • (2012) Circ Res , vol.111 , pp. 907-919
    • Chen, S.N.1    Czernuszewicz, G.2    Tan, Y.3    Lombardi, R.4    Jin, J.5    Willerson, J.T.6
  • 32
    • 84890389952 scopus 로고    scopus 로고
    • New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia
    • Jabbari J, Jabbari R, Nielsen MW, Holst AG, Nielsen JB, Haunsø S, et al. New exome data question the pathogenicity of genetic variants previously associated with catecholaminergic polymorphic ventricular tachycardia. Circ Cardiovasc Genet. 2013;6:481-489. doi:10.1161/CIRCGENETICS.113.000118.
    • (2013) Circ Cardiovasc Genet , vol.6 , pp. 481-489
    • Jabbari, J.1    Jabbari, R.2    Nielsen, M.W.3    Holst, A.G.4    Nielsen, J.B.5    Haunsø, S.6
  • 33
    • 84885833187 scopus 로고    scopus 로고
    • High prevalence of genetic variants previously associated with Brugada syndrome in new exome data
    • Risgaard B, Jabbari R, Refsgaard L, Holst AG, Haunsø S, Sadjadieh A, et al. High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013;84:489-495. doi:10.1111/cge.12126.
    • (2013) Clin Genet , vol.84 , pp. 489-495
    • Risgaard, B.1    Jabbari, R.2    Refsgaard, L.3    Holst, A.G.4    Haunsø, S.5    Sadjadieh, A.6
  • 34
    • 84882453618 scopus 로고    scopus 로고
    • New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants
    • Andreasen C, Nielsen JB, Refsgaard L, Holst AG, Christensen AH, Andreasen L, et al. New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013;21:918-928. doi:10.1038/ejhg.2012.283.
    • (2013) Eur J Hum Genet , vol.21 , pp. 918-928
    • Andreasen, C.1    Nielsen, J.B.2    Refsgaard, L.3    Holst, A.G.4    Christensen, A.H.5    Andreasen, L.6
  • 35
    • 84876276624 scopus 로고    scopus 로고
    • Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy
    • Norton N, Li D, Rampersaud E, Morales A, Martin ER, Zuchner S, et al; National Heart, Lung, and Blood Institute GO Exome Sequencing Project and the Exome Sequencing Project Family Studies Project Team. Exome sequencing and genome-wide linkage analysis in 17 families illustrate the complex contribution of TTN truncating variants to dilated cardiomyopathy. Circ Cardiovasc Genet. 2013;6:144-153. doi:10.1161/CIRCGENETICS.111.000062.
    • (2013) Circ Cardiovasc Genet , vol.6 , pp. 144-153
    • Norton, N.1    Li, D.2    Rampersaud, E.3    Morales, A.4    Martin, E.R.5    Zuchner, S.6    National Heart, Lung, and Blood Institute GO Exome Sequencing Project,7
  • 37
    • 84893756641 scopus 로고    scopus 로고
    • Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks
    • Peloso GM, Auer PL, Bis JC, Voorman A, Morrison AC, Stitziel NO, et al; NHLBI GO Exome Sequencing Project. Association of low-frequency and rare coding-sequence variants with blood lipids and coronary heart disease in 56,000 whites and blacks. Am J Hum Genet. 2014;94:223-232. doi:10.1016/j.ajhg.2014.01.009.
    • (2014) Am J Hum Genet , vol.94 , pp. 223-232
    • Peloso, G.M.1    Auer, P.L.2    Bis, J.C.3    Voorman, A.4    Morrison, A.C.5    Stitziel, N.O.6    NHLBI GO Exome Sequencing Project7
  • 38
    • 84901684867 scopus 로고    scopus 로고
    • Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits
    • Auer PL, Teumer A, Schick U, O'Shaughnessy A, Lo KS, Chami N, et al. Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nat Genet. 2014;46:629-634. doi:10.1038/ng.2962.
    • (2014) Nat Genet , vol.46 , pp. 629-634
    • Auer, P.L.1    Teumer, A.2    Schick, U.3    O'Shaughnessy, A.4    Lo, K.S.5    Chami, N.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.