KEGG   DISEASE: Atrial fibrillation
Entry
H00731                      Disease                                
Name
Atrial fibrillation
Description
Atrial fibrillation (AF, ATFB) is the most common cardiac arrhythmia and is regarded generally as a sporadic, acquired disorder. Nevertheless, recent growing evidence points to an important heritable basis for AF. By linkage analysis, several loci have been mapped for monogenetic AF. Some of these loci encode for subunits of potassium channels.
Category
Cardiovascular disease
Brite
Human diseases in ICD-11 classification [BR:br08403]
 11 Diseases of the circulatory system
  Cardiac arrhythmia
   Supraventricular rhythm disturbance
    BC81  Supraventricular tachyarrhythmia
     H00731  Atrial fibrillation
Pathway-based classification of diseases [BR:br08402]
 Endocrine system
  nt06325  Hormone/cytokine signaling
   H00731  Atrial fibrillation
Pathway
hsa04261  Adrenergic signaling in cardiomyocytes
hsa04270  Vascular smooth muscle contraction
hsa04921  Oxytocin signaling pathway
hsa04725  Cholinergic synapse
hsa04924  Renin secretion
Network
nt06325 Hormone/cytokine signaling
Gene
(ATFB3) KCNQ1 [HSA:3784] [KO:K04926]
(ATFB4) KCNE2 [HSA:9992] [KO:K04896]
(ATFB6) NPPA [HSA:4878] [KO:K12334]
(ATFB7) KCNA5 [HSA:3741] [KO:K04878]
(ATFB9) KCNJ2 [HSA:3759] [KO:K04996]
(ATFB10) SCN5A [HSA:6331] [KO:K04838]
(ATFB11) GJA5 [HSA:2702] [KO:K07614]
(ATFB12) ABCC9 [HSA:10060] [KO:K05033]
(ATFB13) SCN1B [HSA:6324] [KO:K04845]
(ATFB14) SCN2B [HSA:6327] [KO:K04846]
(ATFB15) NUP155 [HSA:9631] [KO:K14312]
(ATFB16) SCN3B [HSA:55800] [KO:K04847]
(ATFB17) SCN4B [HSA:6330] [KO:K04848]
(ATFB18) MYL4 [HSA:4635] [KO:K12750]
Drug
Quinidine sulfate [DR:D02272]
Flecainide acetate [DR:D00638]
Propranolol hydrochloride [DR:D00483]
Verapamil hydrochloride [DR:D00619]
Other DBs
ICD-11: BC81.3
ICD-10: I48
OMIM: 608583 607554 611493 612201 612240 613980 614022 614049 614050 615377 615378 615770 613120 611819 617280
Reference
  Authors
Tsai CT, Lai LP, Hwang JJ, Lin JL, Chiang FT
  Title
Molecular genetics of atrial fibrillation.
  Journal
J Am Coll Cardiol 52:241-50 (2008)
DOI:10.1016/j.jacc.2008.02.072
Reference
  Authors
Otway R, Vandenberg JI, Fatkin D
  Title
Atrial fibrillation--a new cardiac channelopathy.
  Journal
Heart Lung Circ 16:356-60 (2007)
DOI:10.1016/j.hlc.2007.07.003
Reference
PMID:12522251 (ATFB3)
  Authors
Chen YH, Xu SJ, Bendahhou S, Wang XL, Wang Y, Xu WY, Jin HW, Sun H, Su XY, Zhuang QN, Yang YQ, Li YB, Liu Y, Xu HJ, Li XF, Ma N, Mou CP, Chen Z, Barhanin J, Huang W
  Title
KCNQ1 gain-of-function mutation in familial atrial fibrillation.
  Journal
Science 299:251-4 (2003)
DOI:10.1126/science.1077771
Reference
PMID:15368194 (ATFB4)
  Authors
Yang Y, Xia M, Jin Q, Bendahhou S, Shi J, Chen Y, Liang B, Lin J, Liu Y, Liu B, Zhou Q, Zhang D, Wang R, Ma N, Su X, Niu K, Pei Y, Xu W, Chen Z, Wan H, Cui J, Barhanin J, Chen Y
  Title
Identification of a KCNE2 gain-of-function mutation in patients with familial atrial fibrillation.
  Journal
Am J Hum Genet 75:899-905 (2004)
DOI:10.1086/425342
Reference
PMID:18614783 (ATFB6)
  Authors
Hodgson-Zingman DM, Karst ML, Zingman LV, Heublein DM, Darbar D, Herron KJ, Ballew JD, de Andrade M, Burnett JC Jr, Olson TM
  Title
Atrial natriuretic peptide frameshift mutation in familial atrial fibrillation.
  Journal
N Engl J Med 359:158-65 (2008)
DOI:10.1056/NEJMoa0706300
Reference
PMID:16772329 (ATFB7)
  Authors
Olson TM, Alekseev AE, Liu XK, Park S, Zingman LV, Bienengraeber M, Sattiraju S, Ballew JD, Jahangir A, Terzic A
  Title
Kv1.5 channelopathy due to KCNA5 loss-of-function mutation causes human atrial fibrillation.
  Journal
Hum Mol Genet 15:2185-91 (2006)
DOI:10.1093/hmg/ddl143
Reference
PMID:15922306 (ATFB9)
  Authors
Xia M, Jin Q, Bendahhou S, He Y, Larroque MM, Chen Y, Zhou Q, Yang Y, Liu Y, Liu B, Zhu Q, Zhou Y, Lin J, Liang B, Li L, Dong X, Pan Z, Wang R, Wan H, Qiu W, Xu W, Eurlings P, Barhanin J, Chen Y
  Title
A Kir2.1 gain-of-function mutation underlies familial atrial fibrillation.
  Journal
Biochem Biophys Res Commun 332:1012-9 (2005)
DOI:10.1016/j.bbrc.2005.05.054
Reference
PMID:16684018 (ATFB10)
  Authors
Laitinen-Forsblom PJ, Makynen P, Makynen H, Yli-Mayry S, Virtanen V, Kontula K, Aalto-Setala K
  Title
SCN5A mutation associated with cardiac conduction defect and atrial arrhythmias.
  Journal
J Cardiovasc Electrophysiol 17:480-5 (2006)
DOI:10.1111/j.1540-8167.2006.00411.x
Reference
PMID:16790700 (ATFB11)
  Authors
Gollob MH, Jones DL, Krahn AD, Danis L, Gong XQ, Shao Q, Liu X, Veinot JP, Tang AS, Stewart AF, Tesson F, Klein GJ, Yee R, Skanes AC, Guiraudon GM, Ebihara L, Bai D
  Title
Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
  Journal
N Engl J Med 354:2677-88 (2006)
DOI:10.1056/NEJMoa052800
Reference
PMID:17245405 (ATFB12)
  Authors
Olson TM, Alekseev AE, Moreau C, Liu XK, Zingman LV, Miki T, Seino S, Asirvatham SJ, Jahangir A, Terzic A
  Title
KATP channel mutation confers risk for vein of Marshall adrenergic atrial fibrillation.
  Journal
Nat Clin Pract Cardiovasc Med 4:110-6 (2007)
DOI:10.1038/ncpcardio0792
Reference
PMID:19808477 (ATFB13 ATFB14)
  Authors
Watanabe H, Darbar D, Kaiser DW, Jiramongkolchai K, Chopra S, Donahue BS, Kannankeril PJ, Roden DM
  Title
Mutations in sodium channel beta1- and beta2-subunits associated with atrial fibrillation.
  Journal
Circ Arrhythm Electrophysiol 2:268-75 (2009)
DOI:10.1161/CIRCEP.108.779181
Reference
PMID:19070573 (ATFB15)
  Authors
Zhang X, Chen S, Yoo S, Chakrabarti S, Zhang T, Ke T, Oberti C, Yong SL, Fang F, Li L, de la Fuente R, Wang L, Chen Q, Wang QK
  Title
Mutation in nuclear pore component NUP155 leads to atrial fibrillation and early sudden cardiac death.
  Journal
Cell 135:1017-27 (2008)
DOI:10.1016/j.cell.2008.10.022
Reference
PMID:21051419 (ATFB16)
  Authors
Olesen MS, Jespersen T, Nielsen JB, Liang B, Moller DV, Hedley P, Christiansen M, Varro A, Olesen SP, Haunso S, Schmitt N, Svendsen JH
  Title
Mutations in sodium channel beta-subunit SCN3B are associated with early-onset lone atrial fibrillation.
  Journal
Cardiovasc Res 89:786-93 (2011)
DOI:10.1093/cvr/cvq348
Reference
PMID:23604097 (ATFB17)
  Authors
Li RG, Wang Q, Xu YJ, Zhang M, Qu XK, Liu X, Fang WY, Yang YQ
  Title
Mutations of the SCN4B-encoded sodium channel beta4 subunit in familial atrial fibrillation.
  Journal
Int J Mol Med 32:144-50 (2013)
DOI:10.3892/ijmm.2013.1355
Reference
PMID:27066836 (ATFB18)
  Authors
Orr N, Arnaout R, Gula LJ, Spears DA, Leong-Sit P, Li Q, Tarhuni W, Reischauer S, Chauhan VS, Borkovich M, Uppal S, Adler A, Coughlin SR, Stainier DY, Gollob MH
  Title
A mutation in the atrial-specific myosin light chain gene (MYL4) causes familial atrial fibrillation.
  Journal
Nat Commun 7:11303 (2016)
DOI:10.1038/ncomms11303

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