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Table 2 Genotype, allele frequencies, Hardy–Weinberg equilibrium (HWE), genetic distance and F st statistics for seven VEGFA SNPs of AMS and CMS study groups in a comparison with normal Han (H) and Tibetan (T) Chinese populations, respectively

From: VEGFA SNPs and transcriptional factor binding sites associated with high altitude sickness in Han and Tibetan Chinese at the Qinghai-Tibetan Plateau

SNP

 

Population

n

Genotypes

Allele frequencies ± SD

HWE p value

Genetic distance pairwise differences

 

SG

  

AA

AC

CC

A

C

 

SG

1

2

3

rs699947(−)2578

1

AMS (H)

63

1

27

35

0.230 ± 0.037

0.77 ± 0.037

0.157

1

   

2

Normal (H)

59

2

28

29

0.271 ± 0.041

0.729 ± 0.041

0.187

2

−0.004

  

3

CMS (T)

48

2

16

30

0.208 ± 0.041

0.792 ± 0.041

1

3

   

4

Normal (T)

32

 

11

21

0.172 ± 0.047

0.828 ± 0.047

0.556

4

 

0.015

−0.009

    

II

ID

DD

I

D

  

1

2

3

rs34357231 or rs35569394 (−)2550-2549ins 18 bp I/D

1

AMS (H)

64

1

28

35

0.234 ± 0.037

0.766 ± 0.037

0.156

1

   

2

Normal (H)

59

2

29

28

0.28 ± 0.041

0.72 ± 0.041

0.193

2

−0.003

  

3

CMS (T)

48

2

16

30

0.208 ± 0.041

0.792 ± 0.041

1

3

   

4

Normal (T)

32

 

11

21

0.172 ± 0.047

0.828 ± 0.047

0.556

4

 

0.019

−0.009

    

CC

CT

TT

C

T

  

1

2

3

rs79469752 (−)1203

1

AMS (H)

52

44

8

0

0.923 ± 0.026

0.077 ± 0.026

1

1

   

2

Normal (H)

59

55

4

0

0.962 ± 0.018

0.037 ± 0.018

1

2

0.005

  

3

CMS (T)

35

28

7

0

0.90 ± 0.036

0.10 ± 0.036

1

3

   

4

Normal (T)

28

25

3

0

0.946 ± 0.030

0.054 ± 0.030

1

4

 

−0.01

−0.001

    

AA

AG

GG

A

G

  

1

2

3

rs13207351 (−)1190

1

AMS (H)

48

2

26

20

0.313 ± 0.047

0.687 ± 0.047

0.096

1

   

2

Normal (H)

56

5

27

24

0.330 ± 0.045

0.670 ± 0.044

0.762

2

−0.009

  

3

CMS (T)

40

2

16

22

0.25 ± 0.049

0.75 ± 0.049

1

3

   

4

Normal (T)

24

2

11

11

0.313 ± 0.068

0.687 ± 0.068

1

4

 

−0.014

−0.007

    

AA

AC

CC

A

C

  

1

2

3

rs28357093 (−)1179

1

AMS (H)

53

37

15

1

0.839 ± 0.036

0.160 ± 0.036

1

1

   

2

Normal (H)

59

47

11

1

0.889 ± 0.029

0.110 ± 0.029

1

2

0.002

  

3

CMS (T)

46

36

10

0

0.891 ± 0.032

0.109 ± 0.033

1

3

   

4

Normal (T)

29

29

0

0

1

  

4

 

0.073*

0.078*

    

AA

AG

GG

A

G

  

1

2

3

rs1570360 (−)1154

1

AMS (H)

46

0

18

28

0.196 ± 0.042

0.804 ± 0.042

0.171

1

   

2

Normal (H)

55

0

22

33

0.200 ± 0.038

0.800 ± 0.038

0.099

2

−0.01

  

3

CMS (T)

44

0

11

33

0.125 ± 0.036

0.875 ± 0.036

1

3

   

4

Normal (T)

27

0

5

22

0.093 ± 0.040

0.907 ± 0.040

1

4

 

0.028

−0.009

    

CC

CG

GG

C

G

  

1

2

3

rs2010963 (−)634

1

AMS (H)

61

9

35

17

0.434 ± 0.045

0.566 ± 0.045

0.301

1

   

2

Normal (H)

64

7

35

22

0.383 ± 0.043

0.587 ± 0.048

0.291

2

−0.003

  

3

CMS (T)

47

11

27

9

0.521 ± 0.052

0.479 ± 0.052

0.39

3

   

4

Normal (T)

30

7

20

3

0.567 ± 0.065

0.433 ± 0.065

0.075

4

 

0.054*

−0.009

  1. *p < 0.05 computed from F stat statistics
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The Journal of Physiological Sciences

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