Table 1 Gene exon-based results demonstrating a significant association among both discovery (p < 4.6 × 10−8) and replication (p < 0.003) stages for the T5 burden test
From: Whole genome sequence analysis of serum amino acid levels
Metabolite | Gene | Discovery (AA) | Replication (EA) | ||||||
|---|---|---|---|---|---|---|---|---|---|
P | Beta | cMAC | VarExp | P | Beta | cMAC | VarExp | ||
Dimethylglycine | DMGDH | 3.2 × 10−31 | 0.64 | 96 | 3.6% | 8.1 × 10−12 | 0.39 | 73 | 1.7% |
N-acetylthreonine | ACY1 | 1.1 × 10−10 | 0.12 | 239 | 0.6% | 4.7 × 10−5 | 0.26 | 24 | 0.4% |
N-acetylalanine | ACY1 | 4.1 × 10−41 | 0.16 | 239 | 1.5% | 3.9 × 10−15 | 0.25 | 24 | 0.6% |
Asparagine | AGA | 1.1 × 10−10 | 0.34 | 157 | 1.4% | 2.7 × 10−5 | 0.38 | 58 | 0.9% |
Indolelactate | CCBL1 | 2.7 × 10−21 | 0.39 | 87 | 1.6% | 1.1 × 10−7 | 0.26 | 33 | 0.5% |
Alpha-hydroxyisovalerate | HAO2 | 1.6 × 10−8 | 0.64 | 21 | 0.8% | 8.2 × 10−6 | 0.41 | 18 | 0.5% |
Proline | PRODH | 1.4 × 10−29 | 0.14 | 324 | 1.4% | 1.5 × 10−11 | 0.09 | 295 | 0.7% |