Table 2.
Associations between variants identified in the Inter99 cohort and ECG characteristics
| Genes | Variant | Amino acid | refSNP | Number of individuals | Mean RR-interval | Mean QTcB-interval | Mean STJ V1-amplitude | Mean STJ V2-amplitude | |||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Carrier | Non-carrier | Carrier, ms (SD) | Non-carrier, ms (SD) | P-value | Carrier, ms (SD) | Non-carrier, ms (SD) | P-value | Carrier, mm (SD) | Non-carrier, mm (SD) | P-value | Carrier, mm (SD) | Non-carrier, mm (SD) | P-value | ||||
| CAV3 | c.216 C > G | p.(Cys72Trp) | rs116840776 | 11 | 6099 | 928.91 (147.16) | 917.85 (152.46) | 0.654 | 422.30 (23.74) | 423.68 (22.82) | 0.563 | 0.01 (0.19) | 0.08 (0.31) | 0.589 | 0.23 (0.40) | 0.39 (0.51) | 0.547 |
| CAV3 | c.233 C > T | p.(Thr78Met) | rs72546668 | 36 | 6074 | 884.00 (145.25) | 918.07 (152.4) | 0.183 | 421.11 (22.95) | 423.69 (22.82) | 0.450 | 0.18 (0.33)a | 0.08 (0.31) | 0.0380 | 0.49 (0.56) | 0.39 (0.51) | 0.177 |
| GPD1L | c.247 G > A | p.(Glu83Lys) | rs72552292 | 1 | 6109 | 1090.00 (NA) | 917.84 (152.43) | 0.149 | 404.20 (NA) | 423.68 (22.82) | 0.135 | 0.34 (NA) | 0.08 (0.31) | 0.359 | 0.92 (NA) | 0.39 (0.51) | 0.100 |
| GPD1L | c.370 A > G | p.(Ile124Val) | rs72552293 | 32 | 6078 | 912.00 (174.82) | 917.90 (152.33) | 0.977 | 426.58 (22.09) | 423.66 (22.83) | 0.680 | 0.06 (0.29) | 0.08 (0.31) | 0.851 | 0.29 (0.52) | 0.39 (0.51) | 0.507 |
| HCN4 | c.2275 G > A | p.(Val759Ile) | rs62641689 | 87 [1] | 6022 | 948.11 (161.79)a [668.00 (NA)] | 917.47 (152.25) | 0.038 [0.076] | 422.02 (21.74) [428.23 (NA)] | 423.70 (22.84) | 0.274 [0.687] | 0.09 (0.30) [0.83 (NA)]a | 0.08 (0.31) | 0.672 [0.024] | 0.38 (0.45) [1.07 (NA)] | 0.39 (0.51) | 0.991 [0.282] |
| KCNH2 | c.442 C > T | p.(Arg148Trp) | rs139544114 | 7 | 6103 | 874.57 (127.14) | 917.92 (152.46) | 0.460 | 428.85 (9.46) | 423.67 (22.83) | 0.551 | 0.11 (0.35) | 0.08 (0.31) | 0.703 | 0.45 (0.49) | 0.39 (0.51) | 0.649 |
| KCNH2 | c.3140 G > T | p.(Arg1047Leu) | rs36210421 | 364 [4] | 5742 | 912.67 (143.86) [863 (131.92)] | 918.23 (152.99) | 0.505 [0.371] | 421.03 (22.41) [430.15 (15.28)] | 423.69 (22.90) | 0.082 [0.649] | 0.07 (0.28) [0.06 (0.29)] | 0.08 (0.31) | 0.510 [0.731] | 0.40 (0.43) [0.49 (0.76)] | 0.39 (0.51) | 0.781 [0.993] |
| KCNQ1 | c.1343 C > G | p.(Pro448Arg) | rs12720449 | 1 | 6109 | 988.00 (NA) | 917.85 (152.45) | 0.682 | 420.53 (NA) | 423.68 (22.82) | 0.938 | 0.48 (NA) | 0.08 (0.31) | 0.293 | 1.02 (NA) | 0.39 (0.51) | 0.304 |
| SCN1B | c.641 G > A | p.(Arg214Gln) | rs66876876 | 71 | 6039 | 886.93 (173.08) | 918.23 (152.16) | 0.083 | 427.48 (24.48) | 423.63 (22.80) | 0.14 | 0.02 (0.29) | 0.08 (0.31) | 0.111 | 0.34 (0.54) | 0.39 (0.51) | 0.388 |
| SCN3B | c.29 T > C | p.(Leu10Pro) | rs121918282 | 1 | 6109 | 1178.00 (NA) | 917.82 (152.41) | 0.117 | 409.08 (NA) | 423.68 (22.82) | 0.714 | 0.39 (NA) | 0.08 (0.31) | 0.398 | 1.07 (NA) | 0.39 (0.51) | 0.304 |
| SCN5A | c.647 C > T | p.(Ser216Leu) | rs41276525 | 5 | 6105 | 855.60 (100.20) | 917.92 (152.47) | 0.357 | 422.43 (18.76) | 423.68 (22.83) | 0.905 | 0.18 (0.25) | 0.08 (0.31) | 0.389 | 0.48 (0.40) | 0.39 (0.51) | 0.595 |
| SCN5A | c.1571 C > A | p.(Ser524Tyr) | rs41313691 | 1 | 6109 | 1142.00 (NA) | 917.83 (152.42) | 0.169 | 413.61 (NA) | 423.68 (22.82) | 0.788 | 0.00 (NA) | 0.08 (0.31) | 0.626 | 0.29 (NA) | 0.39 (0.51) | 0.567 |
| SCN5A | c.1673A > G | p.(His558Arg) | rs1805124 | 2114 [295] | 3701 | 920.91 (157.78) [918.49 (151.53)] | 916.08 (149.38) | 0.324 [0.949] | 423.99 (22.86) [425.72 (21.99)]a | 423.33 (22.86) | 0.130 [0.026] | 0.07 (0.30) [0.08 (0.33)] | 0.08 (0.31) | 0.101 [0.779] | 0.37 (0.51)a [0.41 (0.54)] | 0.40 (0.50) | 0.004 [0.767] |
| SCN5A | c.3578 G > A | p.(Arg1193Gln) | rs41261344 | 18 | 6092 | 968.11 (104.76) | 917.72 (152.54) | 0.170 | 412.53 (17.69)a | 423.71 (22.83) | 0.037 | 0.10 (0.36) | 0.08 (0.31) | 0.792 | 0.45 (0.51) | 0.39 (0.51) | 0.656 |
| SCN5A | c.5851 G > T | p.(Val1951Leu) | rs41315493 | 3 | 6107 | 853.33 (102.01) | 917.90 (152.46) | 0.389 | 429.14 (2.38) | 423.67 (22.83) | 0.509 | −0.05 (0.13) | 0.08 (0.31) | 0.391 | 0.71 (0.64) | 0.39 (0.51) | 0.366 |
| SCN5A | c.6010 T > C | p.(Phe2004Leu) | rs41311117 | 39 | 6071 | 876.92 (142.88) | 918.13 (152.47) | 0.090 | 427.23 (22.63) | 423.65 (22.82) | 0.322 | 0.05 (0.28) | 0.08 (0.31) | 0.512 | 0.35 (0.54) | 0.39 (0.51) | 0.568 |
| SCN5A | c.6016 C > G | p.(Pro2006Ala) | rs45489199 | 10 | 6100 | 887.80 (170.35) | 917.92 (152.42) | 0.418 | 430.97 (25.77) | 423.66 (22.82) | 0.168 | 0.18 (0.35) | 0.08 (0.31) | 0.467 | 0.31 (0.58) | 0.39 (0.51) | 0.297 |
| SNTA1 | c.784 A > C | p.(Thr262Pro) | rs200316080 | 1 | 6109 | 922.00 (NA) | 917.87 (152.45) | 0.978 | 435.32 (NA) | 423.67 (22.82) | 0.548 | 0.00 (NA) | 0.08 (0.31) | 0.591 | 0.34 (NA) | 0.39 (0.51) | 0.683 |
mm millimeter, ms milliseconds, refSNP reference single-nucleotide polymorphism, SD standard deviation
Brackets indicates homozygote minor allele carriers
aCarrier significant different from non-carrier, P-value < 0.05