Table 2.
Significant gene level associations
| Phenotype | Gene | SKAT p-value | WST p-value | Number of SNVs | Cumulative MAF |
|---|---|---|---|---|---|
| Anthropometry and Body Composition | |||||
| Weight (kg) | PEX1 | 6.59 × 10−7 | 0.4458 | 17 | 0.022 |
| Weight for age z-score | PEX1 | 2.26 × 10−7 | 0.4275 | 17 | 0.022 |
| BMI (kg/m2) | PEX1 | 1.14 × 10−6 | 0.4655 | 17 | 0.022 |
| BMI z-score | PEX1 | 1.34 × 10−6 | 0.6811 | 17 | 0.022 |
| Waist circumference (cm) | PEX1 | 1.49 × 10−6 | 0.3672 | 17 | 0.022 |
| Fat mass (kg) | PEX1 | 1.66 × 10−6 | 0.6009 | 17 | 0.023 |
| Trunk fat mass (kg) | PEX1 | 6.55 × 10−7 | 0.4814 | 17 | 0.024 |
| Systolic blood pressure (mmHg) | CLIC6 | 0.0004 | 1.01 × 10−6 | 6 | 0.007 |
| Energy Expenditure | |||||
| Sleeping energy expenditure (kcal/d) | SOCS4 | 4.23 × 10−7 | 0.2712 | 2 | 0.01 |
| Biochemistries | |||||
| Adiponectin (ng/mL) | ADIPOQ | 2.1 × 10−11 | 2.85 × 10−5 | 4 | 0.009 |
| Plasma cystathionine (μmol/L) | CTH | 2.12 × 10−7 | 0.1539 | 5 | 0.01 |
| Free T4 (ng/dL) | LINGO1 | 1.6 × 10−7 | 0.4982 | 4 | 0.01 |
| Serum IGF-1 free (ng/mL) | ABI3 | 8.75 × 10−7 | 0.2054 | 6 | 0.012 |
| Serum IGF-1 free (ng/mL) | SALL3 | 1.32 × 10−6 | 0.1043 | 4 | 0.007 |
| Urinary dopamine/creatinine ratio | TARSL2 | 3.16 × 10−5 | 7.13 × 10−7 | 4 | 0.003 |
| HDL (mg/dL) | FHDC1 | 0.0241 | 1.5 × 10−6 | 23 | 0.04 |
Abbreviations: SKAT, Sequence Kernel Association Test; WST, Weighted Sums Test; SNV, single nucleotide variant; MAF, minor allele frequency; BMI, body mass index; T4, thyroxine; IGF-1, insulin-like growth factor-1; HDL, high density lipoproteins.
For each significant association both Sequence Kernel Association Test (SKAT) and Weighted Sums Test (WST) p-values are provided, with significant findings highlighted in bold. The number of SNVs used in the test, and the cumulative MAF is listed. Gene level significance cutoff p-value 1.72 × 10−6