Table 2.
Effect of monogenic mutation or polygenic score on LDL-C in mg/dl
| Monogenic mutation or high polygenic score | |||||||||
|---|---|---|---|---|---|---|---|---|---|
| Ancestry | N total | Monogenic carrier (N) | High polygenic score (N) | Monogenic carrier β (mg/dl) | Monogenic carrier SE | Monogenic carrier P-value | Highpolygenic score β (mg/dl) | High polygenic score SE | High polygenic score P-value |
| EA | 5910 | 18 | 297 | 29.98 | 8.07 | 2.1 × 10−4 | 33.07 | 2.05 | 1.7 × 10−57 |
| AA | 4380 | 25 | 220 | 41.05 | 7.93 | 2.3 × 10−7 | 16.96 | 2.74 | 6.4 × 10−10 |
| Monogenic mutation or low polygenic score | |||||||||
| Ancestry | N total | Monogenic carrier ( N ) | Low polygenic score ( N ) | Monogenic carrier β (mg/dl) | Monogenic carrier SE | Monogenic carrier P -value | Low polygenic score β (mg/dl) | Low polygenic score SE | Low polygenic score P -value |
| EA | 5910 | 12 | 297 | −47.25 | 9.55 | 7.7 × 10−7 | −35.00 | 2.00 | 7.9 × 10−67 |
| AA | 4380 | 28 | 220 | −41.41 | 7.47 | 3.1 × 10−8 | −20.41 | 2.74 | 1.1 × 10−13 |
Values are represented as beta [95% CI] in mg/dl for LDL-C. Multi-variable associations were performed with sex + age + age2 (effects not listed) with monogenic carrier status + high polygenic score using linear regression. Polygenic risk score was derived from 2 million variants using LDpred. High polygenic score was defined as membership in the top 5th percentile of the ancestry-specific score distribution. AA, African American; EA, European American; SE, standard error.