Table 4.
Magnitude of Effect of the PCSK9 Sequence Variations Reproducibly Associated with Plasma LDL-C Levels in the DHS Sample[Note]
| Effect,Sequence Variation,and Genotype | No. ofIndividuals | Mean ± SDLDL-C(mg/dl) | Difference inMean LDL-Ca(mg/dl) |
| Decreased LDL-C: | |||
| 54875565_R46Lb: | |||
| G/G | 928 | 110.1 ± 33.31 | |
| G/T | 32 | 86.61 ± 30.52 | 23.5 (21.3) |
| 54882140_Y142Xc: | |||
| C/C | 1,691 | 104.7 ± 35.73 | |
| C/G | 7 | 53.84 ± 32.89 | 50.9 (48.6) |
| 54888340_L253Fc: | |||
| C/C | 1,692 | 104.6 ± 35.92 | |
| C/T | 7 | 73.17 ± 41.28 | 31.4 (30.0) |
| 54893773_A443Tc: | |||
| G/G | 1,378 | 105.3 ± 36.15 | |
| G/A | 292 | 101.6 ± 33.92 | 3.7 (3.5) |
| A/A | 15 | 74.46 ± 18.48 | 30.8 (29.2) |
| 54899133_C679Xc: | |||
| C/C | 1,672 | 105 ± 35.82 | |
| C/A | 26 | 66.27 ± 20.84 | 38.7 (36.9) |
| 54888986_1033060c: | |||
| A/A | 1,021 | 106.7 ± 36.78 | |
| A/T | 535 | 102.3 ± 34.69 | 4.4 (4.1) |
| T/T | 71 | 92.8 ± 31.14 | 13.9 (13.0) |
| 54907116_1033098c: | |||
| G/G | 1,218 | 105.7 ± 36.67 | |
| G/A | 383 | 102.4 ± 33.92 | 3.3 (3.1) |
| A/A | 21 | 76.46 ± 25.68 | 29.2 (27.6) |
| Increased LDL-C: | |||
| 54891027_4814882c: | |||
| G/G | 704 | 102.4 ± 34.55 | |
| G/A | 750 | 105.1 ± 36.61 | 2.7 (2.6) |
| A/A | 173 | 111 ± 38.60 | 8.6 (8.4) |
Note.— Sequence variations are denoted by the chromosomal position according to NCBI build 34 of the human genome, followed by either the amino acid change or the Perlegen reference number.
a
Difference in mean plasma LDL-C level (and percentage) relative to homozygous common genotype.
b
In whites.
c
In blacks.