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 |
Allelic frequencies of MYOC, OPTN, and APOE polymorphisms were compared between southern and northern Chinese. The asterisk indicates that the genetic data of the southern Chinese referred to our previous publication [11. In MYOC, only the three common SNPs (MAF>1%) were shown in the table, and only the frequencies of the minor allele of each polymorphism were shown in the table. The allelic frequencies of the polymorphisms were compared with the χ2 test. The p values were corrected by the Bonferroni method (p<0.05/13=0.0038 was considered statistically significant).