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. Author manuscript; available in PMC: 2013 Jan 31.
Published in final edited form as: Circulation. 2012 Jan 31;125(4):620–637. doi: 10.1161/CIRCULATIONAHA.111.023838

Table 3.

Candidate Genes for SCD in the General Population

Study Gene Frequency of Variant Allele Population N (SCD cases / controls) Findings/Notes
Ion Channels
Westaway, et al. 2011179 CASQ2 GPD1L 29-45% Americans of European ancestry, general population 670/299 Polymorphisms in these genes are associated with SCD.
Albert, et al. 2010188 KCNQ1 KCNH2 SCN5A KCNE1 KCNE2 60-70% Americans of European ancestry, general population 516/1522 2 intronic variants (1 in KCNQ1 and 1 in SCN5A) were associated with SCD.
Stecker, et al. 2006189 SCN5A 1-4%* Americans of European ancestry with coronary disease 67/91 No association was observed between SCN5A polymorphisms or mutations with SCD.
Burke, et al. 2005190 SCN5A (Y1102A) 9% African American, general population 182/107 Y1102A was associated with unexplained arrhythmic death and with SCA with ventricular hypertrophy compared with non-cardiac deaths.
Splawski, et al. 2002191 SCN5A (Y1102A) 13% African American, general population 23/100 Variant is associated with an increased risk of SCD or medication induced QTc prolongation.
Autonomic Nervous System
Gavin, et al. 2011192 β2AR (Gln27Glu) 40-60% Americans of European ancestry, general population 492/1388 When combined with the 2 analyses below, the β2AR polymorphism is associated with SCD.
Tseng, et al. 2008193 β2AR and β1AR 30-40% Aborted SCD and history of MI/CAD, 75% Americans of European ancestry 107/388 No association was observed between any of the variants and SCD.
Sotoodehnia, et al. 2006194 β2AR (Gln27Glu) 57% whites, 81% African Americans American cohort (4441 European ancestry, 808 African Americans) 195/5249 The β2AR variant is associated with SCD in whites but not blacks.
Snapir, et al. 2003195 Alpha2B-AR 51% Finnish, population based 278/405 The deletion/deletion genotype of the alpha2B-adrenoceptor gene increased the risk for SCD in middle-aged men.
Thrombotic and Atherogenic Factors
Hernesniemi, et al. 2008196 IL-18 40% Finnish, population based 275/388 The IL-18 polymorphism is associated with SCD.
Mikkelsson, et al. 2002197 GPIa 50-60% Finnish, population based 275/369 Polymorphisms on the glycoprotein Ia receptor are not associated with SCD.
Reiner, et al. 2002198 Factor V Leiden and PT 20210A 6-9% American cohort (93% European ancestry) 145/592 Mutations in these genes are not associated with SCD.
Mikkelsson, et al. 2001199 GPIbα 23% Finnish 196/289 The variant was associated with coronary thrombosis, fatal MI and SCD in middle age men.
Mikkelsson, et al. 2000200 GPIIIa 30-40% Finnish, population based 281/385 The PlA1/A2 polymorphism of GPIIIa is a risk factor for coronary thrombosis and SCD in middle age.
Angiotensin-Converting Enzyme Pathway
Sotoodehnia, et al. 2009201 REN 15% Americans of European ancestry, population based 211/730 Variations in AGTR1 and AGTR2 are associated with SCA risk in a population-based case-control study.
AGTR1
AGTR2
ACE2
BDRK2
AGT
ACE
KNG1