Table 3.
Genotype distributions and allele frequencies of PCSK9 R496W (rs374603772) and D374Y (rs137852912) in the study groups
| PCSK9 gene mutation | Genotype/haplotype | Patient group n=200 (100%) | Control group n=201 (100%) | P-value |
|---|---|---|---|---|
| PCSK9 R496W (rs374603772) | Wild type (CC) | 187 (93.5%) | 200 (99.5%) | 0.005 |
| Heterozygous (CT) | 12 (6%) | 1 (0.5%) | ||
| Mutant (TT) | 1 (0.5%) | 0 (0%) | ||
| C | 386 | 401 | ||
| T | 14 | 1 | ||
| PCSK9 D374Y (rs137852912) | Wild type (GG) | 186 (93%) | 197 (99.5%) | 0.048 |
| Heterozygous (GA) | 13 (6.5%) | 4 (2%) | ||
| Mutant (AA) | 1 (0.5%) | 0 (0%) | ||
| G | 385 | 398 | ||
| A | 15 | 4 |