. 2019 May 22;26:39. doi: 10.1186/s12929-019-0535-8

Table 1.

List of genetic biomarkers associated with SCD

Gene	Putative gene function	Association with SCD	SNP/mutation	Strength of evidence^a	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 K_v11.1 channel that regulates the rapid component of the delayed rectifier potassium current	Variants were associated with SCD	rs199472830 (p.Phe29Leu)	+	[30]
		Variants were associated with SCD	rs199472882 (p.Pro297Ser)	+	[30]
		Variants were associated with probable SCD cases	rs199472918 (p.Leu552Ser)	+	[31]
		Variants were associated with probable SCD cases	rs36210422 (p.Arg176Trp)	+	[31]
KCNQ1	Encodes the K_v7.1 channel that regulates the slow delayed rectifier current	Variant was associated with SCD	rs120074178 (p.Arg190Trp)	+	[30]
KCNQ1		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.F305Pfs^a27	+	[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)

^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