Table 3.
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.
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.
P<0.05.