Table 2.
Allele and genotype frequencies of candidate gene variants in Greek children.
| Gene | rs Number | AA and nucleotide change | Genotype | n | % | MAF (95% CI) |
|---|---|---|---|---|---|---|
| CETP | 708272 | Taq1B G > A | GG-B1/B1 | 252 | 35.44 | 0.4 |
| GA-B1/B2 | 351 | 49.37 | (0.37, 0.42) | |||
| AA-B2/B2 | 108 | 15.19 | ||||
| APOE | 429358 | C112R | C112/C158-ɛ2 | 34 | 7.78 | ɛ2 −0.09 |
| 7412 | R158C | C112/R158-ɛ3 | 335 | 76.66 | (0.07, 0.10) | |
| R112/R158-ɛ4 | 68 | 15.56 | ɛ4 −0.14 | |||
| (0.10, 0.18) | ||||||
| APOC3 | 2854117 | −482C > T | CC | 304 | 48.41 | 0.31 |
| CT | 262 | 41.72 | (0.28, 0.33) | |||
| TT | 62 | 9.87 | ||||
| APOC3 | 4520a | 1100C > T | CC | 321 | 50.63 | 0.28 |
| CT | 277 | 43.69 | (0.25, 0.30) | |||
| TT | 36 | 5.68 | ||||
| APOC3 | 5128 | Sst1 | GG-S1S1 | 477 | 76.44 | 0.13 |
| 3238G > C | GC-S1S2 | 137 | 21.96 | (0.11, 0.14) | ||
| CC-S2S2 | 10 | 1.6 | ||||
| APOA4 | 675 | S347T | TT | 352 | 57.8 | 0.24 |
| AT | 221 | 36.29 | (0.22, 0.26) | |||
| AA | 36 | 5.91 | ||||
| APOA5 | 662799 | −1131T > C | TT | 556 | 84.5 | 0.08 |
| TC | 97 | 14.74 | (0.07, 0.10) | |||
| CC | 5 | 0.76 | ||||
| APOA5 | 3135506 | S19W | GG | 582 | 90.23 | 0.05 |
| GC | 62 | 9.61 | (0.04, 0.06) | |||
| CC | 1 | 0.16 | ||||
| LPL | 328 | S447X | CC | 540 | 76.49 | 0.13 |
| CG | 154 | 21.81 | (0.11, 0.14) | |||
| GG | 12 | 1.7 | ||||
AA, amino acid; MAF, minor allele frequencie; CI, confidence intervals; APO, apolipoprotein; LPL, lipoprotein lipase and CETP, cholesterol ester transfer protein.
a
Borderline deviation from Hardy–Weinberg Equilibrium (p = 0.02).