Table 3.
Rare variant accumulation identified by resequencing GWAS-identified genes in HTG patients and controls.
| All mutations | Missense/Indels | Nonsense | |||||
|---|---|---|---|---|---|---|---|
| HTG | Controls | HTG | Controls | HTG | Controls | ||
| Total alleles | 876 | 654 | 876 | 654 | 876 | 654 | |
| All Variants | APOA5 | 5 | 1 | 3 | 1 | 2 | 0 |
| GCKR | 20 | 5 | 14 | 4 | 6 | 1 | |
| LPL | 44 | 8 | 43 | 8 | 1 | 0 | |
| APOB | 85 |
39 |
84 |
39 |
1 |
0 |
|
| Total | 154 | 53 | 146 | 52 | 9 | 1 | |
| P = 6.2 × 10-8 | P = 3.2 × 10-7 | P = 0.051 | |||||
| | |||||||
| Exclusive Variants | APOA5 | 4 | 0 | 2 | 0 | 2 | 0 |
| GCKR | 9 | 0 | 7 | 0 | 2 | 0 | |
| LPL | 19 | 2 | 18 | 2 | 1 | 0 | |
| APOB | 15 |
7 |
14 |
7 |
1 |
0 |
|
| Total | 47 | 9 | 42 | 9 | 5 | 0 | |
| P = 2.4 × 10-5 | P = 1.4 × 10-4 | P = 0.075 | |||||
GWAS, genome-wide association study; HTG, hypertriglyceridemia. Exclusive variants refer to rare variants found exclusively in HTG cases or low triglyceride controls; previously reported variants without characterized functional compromise are deliberately excluded. Fisher's exact test was used to calculate the significance of rare variant accumulation in HTG patients, defining nominal statistical significance as a two-sided P < 0.05. Mutation counts and annotations are found in Supplemental Table 1.