Table 2.
Effect size of Brugada Syndrome-associated variants on various ECG markers.
| Nearest gene | Bp substitution, risk allele | rs# | Number of subjects with available ECGs | Alleles | Mean J-point elevation in lead V1, μV | Mean J-point elevation in lead V2, μV | Mean QTcB, ms | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mean, (n) | 95% CI | P-value | Mean, (n) | 95% CI | P-value | Mean, (n) | 95% CI | P-value | |||||
| SCN5A | G/C, C | rs11708996 | 6086 | Allele level | |||||||||
| 0 | 7.2, (4,385) | (6.3–8.0) | 38.5, (4,387) | (37.0–40.0) | 424.1, (4,393) | (423.5–424.8) | |||||||
| 1 | 8.2, (1,548) | (6.8–9.7) | 0.15 | 39.8, (1,549) | (37.4–42.2) | 0.18 | 422.2, (1,549) | (421.1–423.4) | 0.001† | ||||
| 2 | 10.8, (141) | (6.4–15.1) | 0.13 | 43.3, (141) | (36.1–50.1) | 0.17 | 418.9, (141) | (415.2–422.6) | 0.003† | ||||
| SCN10A | C/T, C | rs6800541 | 6087 | Allele level | |||||||||
| 0 | 5.8, (2,353) | (4.6–7.0) | 36.5, (2,353) | (34.5–38.5) | 424.4, (2,353) | (423.5–425.1) | |||||||
| 1 | 7.8, (2,801) | (6.7–8.8) | 0.02† | 39.1, (2,803) | (37.3–40.9) | 0.1 | 423.1, (2,808) | (422.2–423.9) | 0.06 | ||||
| 2 | 11.1, (921) | (9.2–13.0) | <0.001† | 44.8, (922) | (41.5–48.0) | <0.001† | 422.6, (923) | (421.1–424.1) | 0.06 | ||||
| HEY2 | T/C, C | rs9388451 | 5996 | Allele level | |||||||||
| 0 | 6.9, (1,522) | (5.5–8.4) | 38.8, (1,522) | (36.3–41.3) | 424.0, (1,526) | (422.8–425.2) | |||||||
| 1 | 8.1, (3,052) | (7.0–9.1) | 0.25 | 39.5, (3,052) | (37.7–41.3) | 0.89 | 423.3, (3,054) | (422.5–424.1) | 0.49 | ||||
| 2 | 6.9, (1,411) | (5.4–8.4) | 0.87 | 37.8, (1,413) | (35.3–40.4) | 0.44 | 423.3, (1,413) | (422.1–424.4) | 0.42 | ||||
| Nearest gene | Bp substitution, risk allele | rs# | Number of subjects with available ECGs | Alleles | Mean PR-interval, ms | Mean QRS duration, ms | |||||||
| Mean, (n) | 95% CI | P-value | Mean | 95 % CI | P-value | ||||||||
| SCN5A | G/C, C | rs11708996 | 6086 | Allele level | |||||||||
| 0 | 157.1, (4,372) | (156.4–157.7) | 91.4, (4,380) | (91.0–91.7) | |||||||||
| 1 | 160.0. (1.541) | (158.9–161.2) | <0.001† | 92.6, (1,547) | (92.1–93.2) | <0.001† | |||||||
| 2 | 160.2, (138) | (156.8–163.5) | 0.08 | 92.2, (141) | (90.6–93.9) | 0.22 | |||||||
| SCN10A | C/T, C | rs6800541 | 6087 | Allele level | |||||||||
| 0 | 155.3, (2,337) | (154.4–156.1) | 90.9, (2,352) | (90.5–91.3) | |||||||||
| 1 | 158.7, (2,795) | (157.9–159.5) | <0.001† | 92.1, (2,798) | (91.7–92.5) | <0.001† | |||||||
| 2 | 162.3, (920) | (160.8–163.7) | <0.001† | 92.6, (919) | (91.9–93.3) | <0.001† | |||||||
| HEY2 | T/C, C | rs9388451 | 5996 | Allele level | |||||||||
| 0 | 157.0, (1,520) | (155.9–158.1) | 92.0, (1,520) | (91.4–92.5) | |||||||||
| 1 | 157.9, (3,039) | (157.1–158.7) | 0.24 | 91.8, (3,049) | (91.4–92.1) | 0.30 | |||||||
| 2 | 158.9, (1,403) | (157.7–160.1) | 0.03† | 91.2, (1,410) | (90.7–91.8) | 0.02† | |||||||
Outliers outside mean ± 5 SD were not included in the calculations (PR-interval; n = 6, QRS-duration; n = 17, QTc-interval; n = 2, JPE V1; n = 11, JPE V2; n = 8). bp, basepair; CI, confidence interval; ECG, electrocardiogram; QTcB, QT interval corrected with Bazett's formula.
†
statistically significant, P-value < 0.05. Age and sex adjusted.