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Table 1 Atrial fibrillation (AF) susceptibility genes and loci

From: Personalized medicine and atrial fibrillation: will it ever happen?

AF susceptibility genes AF susceptibility loci
Gene Mechanism Ref. Chromosomal locus Candidate gene Ref.
Potassium channel Large-scale candidate gene or genome-wide association study
KCNQ1 Enhanced repolarization (increased IKs) [6165] 1q21 IL6R [66]
KCNE1 Enhanced repolarization (increased IKs) [9, 6769] 1q21 KCNN3 [15, 16]
KCNE2 Enhanced repolarization (increased IKs) [70] 1q24 PRRX1 [16]
KCNE5 Enhanced repolarization (increased IKs) [71] 4q25 PITX2 [1216]
KCNH2 Enhanced repolarization (increased IKr) [72, 73] 7q31 CAV1 [16]
KCNJ2 Enhanced repolarization (increased IK1) [74] 9q22 C9orf3 [16]
KCNA5 Delayed repolarization and afterdepolarizations (decreased IKur) [75] 10q22 SYNPO2L/MYOZ1 [16]
Sodium channel 14q23 SYNE2 [16]
SCN5A Hyperpolarizing shift in inactivation (loss-of-function)/depolarizing shift in inactivation (gain-of-function) [7681] 15q24 HCN4 [16]
SCN1B Decreased INa current and altered channel gating [82] 16q22 ZFHX3 [16]
SCN2B Decreased INa current and altered channel gating [82] Familial loci without known gene
Ion channel-related 6q14-q16 - [83]
GJA5 Impaired cellular transport and intercellular electrical coupling, increased dispersion of refractoriness [8487] 10p11-q21 - [88]
ANK2 Loss-of-function reduces expression and membrane targeting of Cav1.3 (decreased ICa,L) [89, 90] 10q22-q24 - [91]
Non-ion channel   
LMNA Disruption of nuclear function or altered interaction with cytoplasmic proteins [9295]   
NUP155 Reduced nuclear membrane permeability, enhanced repolarization [96, 97]   
AGT Unknown [98, 99]   
ACE Insertion/deletion, unknown mechanism [100102]   
NPPA Mutant peptide, enhanced repolarization [103]   
  1. AF susceptibility genes were based on prior linkage mapping or candidate gene sequencing efforts. AF susceptibility loci were based on candidate gene chip or genome-wide association studies.