Table 5 of Jia, Mol Vis 2009; 15:89-98. Table 5 of Jia, Mol Vis 2009; 15:89-98.
Table 5. Allele frequencies of MYOC, OPTN, and APOE variants in southern and northern Chinese.
Location |
Sequence change |
Codon change |
Allele frequency in HTG patients (%) | Comparison (p value) |
Allele frequency in controls (%) | Comparison (p value) |
||
|---|---|---|---|---|---|---|---|---|
| Southern* (n=588) | Northern (n=352) | Southern (n=562) | Northern (n=400) | |||||
| MYOC | ||||||||
| Promoter | −83G>A | - | 37 (6.3) | 16 (4.5) | 0.26 | 50 (8.9) | 30 (7.5) | 0.44 |
| Exon 1 | c. 227 G>A | R76K | 38 (6.5) | 13 (3.7) | 0.07 | 51 (9.1) | 28 (7.0) | 0.25 |
| Intron 2 | IVS2+35A>G | - | 119 (20.2) | 69 (19.6) | 0.81 | 91 (16.2) | 84 (21.0) | 0.057 |
| OPTN | ||||||||
| Exon 5 | c.603 T>A | M98K | 100 (17.0) | 39 (11.1) | 0.013 | 88 (15.7) | 48 (12) | 0.11 |
| Exon 16 | c.1944 G>A | R545Q | 21 (3.6) | 12 (3.0) | 0.9 | 19 (3.4) | 13 (3.25) | 0.91 |
| Intron 5 | IVS5+38T>G | - | 73 (12.4) | 118 (33.5) | 3.8×10–15 | 29 (5.2) | 121 (30.25) | 4.0×10−26 |
| Intron 8 | IVS8–53T>C | - | 21 (3.6) | 27 (7.7) | 0.006 | 12 (2.1) | 24 (6.0) | 0.002 |
| Intron 15 | IVS15+10G>A | - | 9 (1.5) | 8 (2.3) | 0.41 | 8 (1.4) | 7 (1.75) | 0.69 |
| APOE | ||||||||
| Promoter | −491A>T | - | 28 (4.8) | 8 (2.3) | 0.054 | 15 (2.7) | 13 (3.25) | 0.6 |
| Promoter | −427 T>C | - | 5 (0.9) | 25 (7.1) | 1.3×10–7 | 5 (0.9) | 36 (9.0) | 8.4×10−10 |
| Promoter | −219 T>G | - | 222 (37.8) | 93 (26.4) | 0.00037 | 187 (33.3) | 117 (29.25) | 0.19 |
| Exon 4 | ε2/ε4/ε3 | R158C, C112R | 63/39/486 (10.7/6.6/82.7) | 34/38/280 (9.7/10.8/79.5) | 0.076 | 48/52/462 (8.5/9.3/82.2) | 35/36/329 (8.8/9.0/82.2) | 0.99 |