Research Article
Association of EPAS1 and PPARA Gene Polymorphisms with High-Altitude Headache in Chinese Han Population
Table 2
SNP information and genotype distribution in 580 subjects.
| SNP | Allele | Gene | Chromosome position | N | Genotype frequencies | MAF (%) | value for HWE test |
| rs13419896 | G/A | EPAS1 | Chr2:46329206 | 577 | 0.47/0.43/0.10 | 31.0 | 1.000 | rs4953354 | A/G | EPAS1 | Chr2:46348249 | 580 | 0.76/0.23/0.01 | 13.0 | 0.460 | rs6756667 | G/A | EPAS1 | Chr2:46352270 | 580 | 0.78/0.21/0.01 | 11.0 | 0.680 | rs7292407 | C/A | PPARA | Chr22:46057832 | 549 | 0.74/0.23/0.03 | 15.0 | 0.090 | rs6520015 | T/C | PPARA | Chr22:46067551 | 580 | 0.69/0.28/0.03 | 17.0 | 0.770 | rs4253623 | A/G | PPARA | Chr22:46154203 | 575 | 0.75/0.23/0.02 | 13.0 | 1.000 | rs135538 | G/C | PPARA | Chr22:46168728 | 577 | 0.33/0.46/0.21 | 44.0 | 0.180 | rs4253681 | T/C | PPARA | Chr22:46183703 | 579 | 0.64/0.32/0.04 | 20.0 | 0.890 | rs4253747 | T/A | PPARA | Chr22:46217340 | 580 | 0.63/0.33/0.04 | 27.0 | 0.900 | rs2009873 | A/G | EGLN1 | Chr1:231363490 | 576 | 0.34/0.48/0.18 | 42.0 | 0.550 | rs2066140 | G/C | EGLN1 | Chr1:231368565 | 578 | 0.34/0.48/0.18 | 42.0 | 0.800 | rs2739513 | A/G | EGLN1 | Chr1:231379455 | 563 | 0.34/0.48/0.18 | 42.0 | 0.600 | rs2486736 | A/G | EGLN1 | Chr1:231385732 | 572 | 0.33/0.49/0.18 | 42.0 | 1.000 | rs480902 | C/T | EGLN1 | Chr1:231395881 | 579 | 0.34/0.48/0.18 | 42.0 | 0.860 | rs508618 | A/G | EGLN1 | Chr1:231396566 | 578 | 0.78/0.21/0.01 | 11.0 | 0.130 | rs2790882 | A/G | EGLN1 | Chr1:231397037 | 575 | 0.33/0.49/0.18 | 43.0 | 0.930 | rs2486729 | A/G | EGLN1 | Chr1:231399838 | 576 | 0.34/0.45/0.20 | 43.0 | 0.089 | rs7542797 | A/C | EGLN1 | Chr1:231418041 | 577 | 0.76/0.22/0.01 | 12.0 | 0.850 | rs1339891 | G/A | EGLN1 | Chr1:231420649 | 579 | 0.81/0.18/0.01 | 10.0 | 1.000 | rs12406290 | A/G | EGLN1 | Chr1:231423480 | 561 | 0.28/0.49/0.22 | 47.0 | 0.870 | rs2153364 | A/G | EGLN1 | Chr1:231424474 | 530 | 0.28/0.49/0.23 | 48.0 | 0.073 | rs2275279 | A/T | EGLN1 | Chr1:231591348 | 579 | 0.54/0.38/0.08 | 27.0 | 0.250 | rs2301104 | G/C | HIF1A | Chr14:61698310 | 579 | 0.87/0.13/0.00 | 7.0 | 0.500 | rs12434438 | A/G | HIF1A | Chr14:61730580 | 568 | 0.56/0.39/0.05 | 24.0 | 0.170 | rs966824 | C/T | HIF1A | Chr14:61733800 | 574 | 0.68/0.30/0.02 | 17.0 | 0.380 | rs2301112 | A/C | HIF1A | Chr14:61739455 | 545 | 0.91/0.09/0.00 | 5.0 | 1.000 | rs2301113 | A/C | HIF1A | Chr14:61739830 | 576 | 0.43/0.46/0.10 | 34.0 | 0.400 | rs2295778 | C/G | HIF1AN | Chr10:100536079 | 578 | 0.58/0.36/0.06 | 24.0 | 0.910 | rs11190602 | T/C | HIF1AN | Chr10:100537499 | 578 | 0.78/0.20/0.02 | 12.0 | 0.420 | rs3750633 | G/A | HIF1AN | Chr10:100548457 | 579 | 0.85/0.14/0.01 | 8.0 | 0.390 | rs10883512 | A/G | HIF1AN | Chr10:100548759 | 579 | 0.85/0.14/0.01 | 8.0 | 0.560 | rs11816840 | G/C | HIF1AN | Chr10:100549463 | 579 | 0.85/0.14/0.01 | 8.0 | 0.770 | rs1054399 | C/T | HIF1AN | Chr10:100552808 | 579 | 0.85/0.14/0.01 | 8.0 | 0.390 | rs11292 | T/C | HIF1AN | Chr10:100553850 | 580 | 0.85/0.14/0.01 | 8.0 | 0.390 | rs11190613 | T/C | HIF1AN | Chr10:100554240 | 580 | 0.85/0.14/0.01 | 8.0 | 0.390 |
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SNP, single nucleotide polymorphism; MAF, minor allele frequency; HWE, Hardy–Weinberg equilibrium.
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