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Table 1 List of genetic biomarkers associated with SCD

From: Sudden Cardiac Death (SCD) – risk stratification and prediction with molecular biomarkers

Gene Putative gene function Association with SCD SNP/mutation Strength of evidencea Ref
SCN5A Encodes α subunit of the cardiac voltage-gated sodium channel (Nav1.5) Variants were associated with SCD rs7626962 (p.Ser1103Tyr) ++ [25]
rs11720524 [22]
rs41312391 [26]
KCNH2 Encodes the Kv11.1 channel that regulates the rapid component of the delayed rectifier potassium current Variants were associated with SCD rs199472830 (p.Phe29Leu) + [30]
rs199472882 (p.Pro297Ser) [30]
Variants were associated with probable SCD cases rs199472918 (p.Leu552Ser) + [31]
rs36210422 (p.Arg176Trp) [31]
KCNQ1 Encodes the Kv7.1 channel that regulates the slow delayed rectifier current Variant was associated with SCD rs120074178 (p.Arg190Trp) + [30]
Variant was associated with an increased risk of SCD rs2283222 + [32]
RYR2 Encodes calcium channel involved in the regulation of calcium ion release from the sarcoplasmic reticulum Variant was associated with an increased risk of SCD rs3766871 (p.Gly1886Ser) ++ [23]
MYBPC3 Encodes cardiac myosin binding protein C required for normal cardiac function Variant was associated with an increased risk of SCD p.F305Pfsa27 + [34]
ACE Encodes angiotensin converting enzyme that catalyzes the conversion of angiotensin I to angiotensin II and the inactivation of bradykinin via the kallikrein-kininogen system Variant was associated with an increased risk of SCD DD genotype or D allele + [35]
PKP2 Encodes plakophilin 2 which is responsible for linking cadherins to intermediate filaments in the cytoskeleton Variants were associated with arrhythmia disorder and risk of SCD Q59L + [31]
DSP Encodes desmoplakin that functions to maintain structure integrity Variants were associated with sudden unexplained nocturnal death syndrome (SUNDS) rs188516326 (p.Q90R) + [36]
rs116888866 (p.R2639Q)
rs200476515 (p.R315C)
rs569786610 (p.E1357D)
rs185367490 (p.N1234S)
rs184154918 (p.R1308Q)
rs181378432 (p.T2267S)
novel (p.D2579H) (p.I125F) (p.D521A)
  1. aStrength of evidence was rated as “+”: weak, “++”: medium and “+++”: strong based on number of published findings supporting significant correlation of a particular biomarker with SCD, sample size and clinical validity