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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]

Q62K

N613K

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