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. 2018 Mar 3;7(5):e007837. doi: 10.1161/JAHA.117.007837

Table 3.

Yields of Gene Variants in SUNDS Versus EAS in ExAC or gnomAD

Gene Alleles/Total SUNDS Cases (%) ExAC gnomAD
Alleles/Total EAS Exomes (%) P Valuea Alleles/Total EAS Exomes (%) P Value
Na+ channels
SCN5A 13/167 (7.78) 19/4327 (0.43) <0.001b 45/9345 (0.48) <0.001b
SCN1B 5/167 (2.99) 63/4327 (1.46) 0.214 144/9345 (1.53) 0.249
SCN3B 1/167 (0.60) 3/4327 (0.07) 0.141 5/9345 (0.05) 0.101
SCN10A 5/105 (4.76) 152/4327 (3.51) 0.696 338/9345 (3.58) 0.736
K+ channels
KCNQ1 2/152 (1.32) 5/4327 (0.12) 0.022b 17/9345 (0.18) 0.037b
KCNH2 3/152 (1.97) 6/4327 (0.14) 0.003b 15/9345 (0.16) 0.003b
KCNE1 1/149 (0.67) 0/4327 (0) 0.034b 0/9345 (0.00) 0.016b
KCNE2 1/148 (0.68) 0/4327 (0) 0.034b 0/9345 (0.00) 0.016b
KCNJ5 1/44 (2.27) 2/4327 (0.05) 0.031b 4/9345 (0.04) 0.024b
Ca2+ channels
CACNA1C 2/44 (4.55) 5/4327 (0.12) 0.002b 17/9345 (0.18) 0.004b
CACNB2 1/44 (2.27) 0/4327 (0) 0.010b 2/9345 (0.02) 0.014b
Connexome
PKP2 2/144 (1.39) 0/4327 (0) 0.001b 0/9345 (0.00) <0.001b
DSP 5/40 (12.50) 84/4327 (1.94) 0.002b 197/9345 (2.09) 0.002b
GJA1 2/124 (1.61) 0/4327 (0) 0.001b 0/9345 (0.00) <0.001b
VCL 1/44 (2.72) 2/4327 (0.05) 0.031b 5/9345 (0.05) 0.028b
Other genes
LRRC10 3/113 (2.65) 18/4327 (0.42) 0.016b 31/9345 (0.33) 0.008b
ABCC9 1/44 (2.27) 10/4327 (0.23) 0.107 27/9345 (0.29) 0.126
ACTN2 2/44 (4.55) 4/4327 (0.09) 0.002b 12/9345 (0.13) 0.002b
AKAP9 2/44 (4.55) 89/4327 (2.06) 0.241 195/9345 (2.07) 0.244
ANKRD 1/44 (2.27) 11/4327 (0.25) 0.117 22/9345 (0.23) 0.104
DMPK 1/44 (2.27) 0/4327 (0) 0.01b 9/9345 (0.10) 0.047b
EYA4 1/44 (2.27) 0/4327 (0) 0.01b 0/9345 (0.00) 0.005b
GATA4 2/44 (4.55) 0/4327 (0) <0.001b 0/9345 (0.00) <0.001b
JUP 1/44 (2.27) 19/4327 (0.44) 0.187 34/9345 (0.36) 0.155
LDB3 2/44 (4.55) 10/4327 (0.23) 0.007b 26/9345 (0.28) 0.008b
LMNA 1/44 (2.27) 0/4327 (0) 0.01b 3/9345 (0.03) 0.019b
MYBPC3 3/44 (6.82) 8/4327 (0.18) <0.001b 19/9345 (0.20) <0.001b
MYH6 3/44 (6.82) 20/4327 (0.46) 0.002b 50/9345 (0.53) 0.002b
MYH7 2/44 (4.55) 6/4327 (0.14) 0.003b 10/9345 (0.11) 0.001b
NUP155 1/44 (2.27) 1/4327 (0.02) 0.02b 3/9345 (0.03) 0.019b
SGCD 1/44 (2.27) 55/4327 (1.27) 0.438 143/9345 (1.52) 0.497
TNNT2 1/44 (2.27) 0/4327 (0) 0.01b 0/9345 (0.00) 0.005b
Total 107.11 13.68 14.37

EAS indicates East Asian; MAF, minor allele frequency; SUNDS, sudden unexplained nocturnal death syndrome.

a

Nonsynonymous and splice site variants with MAF <0.01 in all SUNDS cases were compared with EAS in ExAC or gnomAD by χ2 tests using the SPSS 20.0. Continuity‐adjusted χ2 test or Fisher exact text are also chosen according to expected frequencies of the cells. A 2‐sided P<0.05 was considered significant.

b

P<0.05.