Table 3 Genotypic and allelic frequencies for SNPs in the indicated genes and comparisons with the reference population
SNP | Base substitution involved (SNP position) | Genotypic frequency, n (%) | MAFa | Reference population genotypes, n (%) | MAFb | OR (95% CI) | P-valuec | ||||
|---|---|---|---|---|---|---|---|---|---|---|---|
HD | HT | HR | HD | HT | HR | ||||||
(a) ABCG2, ABCC2, GATM, COQ2 and APOA5 genes | |||||||||||
rs2231142 (ABCG2) | G > T (chr4:88131171) | 192 (83.9) | 20 (8.7) | 17 (7.4) | 0.12 | 251 (49.8) | 213 (42.3) | 40 (7.9) | 0.29 | 0.326 (0.238–0.447) |  < 0.001 |
rs717620 (ABCC2) | C > T (chr10:99782821) | 15 (11.9) | 77 (61.1) | 34 (27) | 0.58 | 315 (62.5) | 159 (31.5) | 30 (6.0) | 0.22 | 4.882 (3.649–6.533) |  < 0.001 |
rs9806699 (GATM) | G > A (chr15:45448194) | 39 (17.0) | 93 (40.6) | 97 (42.4) | 0.63 | 35 (6.9) | 212 (42.1) | 251 (51.0) | 0.72 | 0.663 (0.524–0.838) |  < 0.001 |
rs4693075 (COQ2) | G > C (chr4:83271015) | 5 (2.2) | 7 (3.1) | 217 (94.8) | 0.96 | 6 (1.2) | 118 (23.4) | 380 (75.4) | 0.87 | 3.841 (2.287–6.449) | 0.333d |
rs662799 (APOA5) | A > G (chr11:116792991) | 59 (25.8) | 135 (59.0) | 35 (15.3) | 0.45 | 251 (49.8) | 216 (42.9) | 37 (7.3) | 0.29 | 2.006 (1.595–2.523) |  < 0.001 |
SNP (gene) | Alleles (SNP position) | Frequencies for the genotypes, n (%) | Observed MAF of the present study | Frequencies for the genotypes in the reference population, n (%) | MAF from the reference population | OR (95% CI) | P-value | |
|---|---|---|---|---|---|---|---|---|
(b) APOE gene | ||||||||
rs429358 | E3 > E2 | E3E3 | 101 (44.1) | 0.35 | 140 (62.2) | 0.13 | 3.490 (2.502–4.868) |  < 0.001 |
rs7412 | E3 > E4 | E3E4 | 96 (41.9) | 46 (20.4) | ||||
(APOE) | (chr19:44908684) | E4E4 | 32 (14.0) | 7 (3.11) | ||||
| Â | (chr19:44908822) | E2E4 | 0 (0) | 0 (0.0) | ||||
| Â | Â | E2E3 | 0 (0) | 32 (14.2) | ||||
| Â | Â | E2E2 | 0 (0) | 0 (0.0) | ||||