Table 3 The distribution of common PAH gene mutations within China.
Trivial name (protein effect) | Chinese mainland population | Taiwanese population | |||||||
|---|---|---|---|---|---|---|---|---|---|
Present study | p value | Previous study12 | p value | Taiwanese study40 | |||||
RF(%) | RF(%) | RF(%) | |||||||
Chinese (n = 796) | Northern China (n = 557) | Southern China (n = 239) | Chinese (n = 212) | Northern China (n = 100) | Southern China (n = 112) | ||||
p.R243Q | 17.53 | 18.13 | 16.11 | 0.3300 | 25.43 | 25.50 | 23.21 | 0.6616 | 4.60 |
p.EX6-96A > G | 7.66 | 7.54 | 7.95 | 0.7780 | 8.89 | 6.50 | 10.27 | 0.1463 | 9.20 |
p.V399V | 5.84 | 6.64 | 3.97 | 0.0370** | 3.21 | 2.50 | 3.57 | 0.4999 | 3.50 |
p.R241C | 5.40 | 4.40 | 7.74 | 0.0070** | 3.70 | 3.00 | 4.02 | 0.5453 | 23.20 |
p.R111* | 4.77 | 5.39 | 3.35 | 0.0800 | 3.70 | 4.00 | 3.13 | 0.6536 | 3.50 |
p.Y356* | 4.46 | 5.12 | 2.93 | 0.0530 | 5.19 | 5.55 | 4.46 | 0.6560 | 0.70 |
p.R413P | 4.33 | 5.39 | 1.88 | 0.0020** | 5.43 | 8.00 | 2.68 | 0.0155** | 4.90 |
IVS4-1G > A | 3.77 | 3.23 | 5.02 | 0.0860 | 6.42 | 6.00 | 6.25 | 0.8742 | 0.70 |
