Table 1. CYB561 3'-UTR variant A+1485G (rs3087776): Effect on heritable stress heart rate traits in twins and sibs.
Heritability (h2) and genetic covariance were estimated from variance components in twin pairs (MZ versus DZ), with SOLAR. Significance was estimated by MERLIN in twins and sibs, while descriptive statistics were computed by GEE in SAS.
| 1a. Change in heart rate (HR, beats/min) during cold stress (n=576). Bold: p<0.05. | ||
|---|---|---|
| Trait | Value (beats/min) | Change from basal (p-value). |
| Basal/resting HR | 72.0±0.50 | - |
| Post-stress HR | 75.4±0.53 | - |
| Delta (pre→post) HR | 3.2±0.39 | p=1.92E-13 |
| 1b. Heart rate (HR) traits in twin pairs: Heritability and shared genetic determination (pleiotropy). | |||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|
| Heart rate (HR) trait (beats/min) | Trait heritability (h^2) in twins (n=384) | Correlation with basal HR | Shared genetic determination (pleiotropy) with basal HR | Shared environmental determination with basal HR | |||||||
| Spearman | |||||||||||
| h^2 | SEM | P-value | ρ | P-value | Rho_G | SEM | P-value | Rho_E | SEM | P-value | |
| Basal/resting HR | 0.509 | 0.064 | 2.47E-10 | - | - | - | - | - | - | - | - |
| During-stress HR | 0.551 | 0.059 | 8.79E-13 | 0.682 | 2.73E-75 | 0.747 | 0.058 | 2.85E-09 | 0.603 | 0.055 | 8.61E-16 |
| Delta (pre→during) HR | 0.407 | 0.069 | 1.00E-07 | −0.299 | 1.94E-13 | −0.265 | 0.122 | 0.056 | −0.443 | 0.068 | 2.46E-08 |
| 1c. Effects of CYB561 3'-UTR variant on HR traits. | ||||
|---|---|---|---|---|
| Category/Trait | 3’-UTR A+1485G diploid genotype (n=576) | P-value | ||
| A/A(122) | A/G (289) | G/G (165) | ||
| Heart rate, beats/min | ||||
| Before environmental (cold) stress | 70.0±1.2 | 72.6±0.8 | 73.1±1.1 | 0.010 |
| During environmental (cold) stress | 72.0±1.3 | 76.4±0.8 | 75.7±1.2 | 0.002 |
Bold: p<0.05. “()”: n.
Heritability (h^2), Rho_G, and Rho_E were estimated from twin pair (MZ versus DZ) variance components in SOLAR. Bold: p<0.05.
Model: A_allele recessive; covariates: age, sex, ancestry. Bold: p<0.05.