Table 2. Three SNPs genotype and allele frequency distribution of EPAS1 gene in different populations.
| SNP | Genotype or alleleassociated with SNP | Native Tibetans (n%. N = 155) | Plain group (n%, N = 190) | OR (95% CI) | P value* |
|---|---|---|---|---|---|
| rs13419896 | |||||
| Genotype | G/G | 4 (2.6) | 83 (43.7) | 1 | |
| G/A | 35 (22.6) | 90 (47.4) | 0.124(0.042–0.364) | 0.000 | |
| A/A | 116 (74.8) | 17 (8.9) | 0.007 (0.002–0.022) | 0.000 | |
| Allele | G | 43 (13.9) | 256 (67.4) | 1 | |
| A | 267 (86.1) | 124 (32.6) | 0.078 (0.053–0.115) | 0.000 | |
| rs1868092 | |||||
| Genotype | G/G | 12 (7.7) | 152 (80.0) | 1 | |
| G/A | 61 (39.4) | 37 (19.5) | 0.048 (0.023–0.098) | 0.000 | |
| A/A | 82 (52.9) | 1 (0.5) | 0.001 (0.000–0.008) | 0.000 | |
| Allele | G | 85 (27.4) | 341 (89.7) | 1 | |
| A | 225 (72.6) | 39 (10.3) | 0.043 (0.029–0.065) | 0.000 | |
| rs4953354 | |||||
| Genotype | A/A | 18 (11.6) | 144 (75.8) | 1 | |
| G/A | 40 (25.8) | 44 (23.1) | 0.138 (0.072–0.264) | 0.000 | |
| G/G | 97 (62.6) | 2 (10.1) | 0.003 (0.001–0.011) | 0.000 | |
| Allele | A | 76(24.5) | 332 (87.4) | 1 | |
| G | 234 (75.5) | 48 (12.6) | 0.047 (0.032–0.070) | 0.000 |
Notes.
OR: Odds ratio, OR >1 indicates that this factor is a risk factor; OR value <1 indicates that this factor is a protective factor.
* means Heterozygous mutation or Homozygous mutation group compared with wild type group, P < 0.05 was considered to be statistically significant.