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Table 2 Comparison of variant frequencies between HAPE and non-HAPE groups

From: Association of variants m.T16172C and m.T16519C in whole mtDNA sequences with high altitude pulmonary edema in Han Chinese lowlanders

Site

Genotype

Gene

Mutation

Protein change

HAPE

(n = 49)

non-HAPE

(n = 58)

HAPE versus non-HAPE

P-value

P-adjust

OR

95%CI

C194T

T

TRNF

c.-383C > T

 

0 (0%)

3 (5.17%)

0.106

0.304

1.055

0.993–1.120

A263G

G

TRNF

c.-314A > G

 

45 (91.84%)

58 (100%)

0.027*

0.088

0.918

0.845–0.998

T310N

N

TRNF

c.-267T > N

 

27 (55.10%)

44 (75.86%)

0.024*

0.039*

0.390

0.171–0.890

(310–311) insC

insC

TRNF

c.-267_-266insC

 

22 (44.90%)

14 (24.14%)

0.024*

0.039*

2.561

1.124–5.836

G6179A

A

COX1

c.276G > A

p. Met92Ile

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

C6960T

T

COX1

c.1057C > T

p. Leu353Leu

0 (0%)

3 (5.17%)

0.106

0.304

1.055

0.993–1.120

A8459G

G

ATP8

c.94A > G

p. Asn32Asp

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

C8684T

T

ATP6

c.158C > T

p. Thr53Ile

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

T11944C

C

ND4

c.1185T > C

p.Leu395Leu

4 (8.16%)

1 (1.72%)

0.116

0.266

5.067

0.547–46.926

C14067T

T

ND5

c.1731C > T

p. Thr577Thr

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

T14470C

C

ND6

c.204A > G

p. Gly68Gly

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

A15235G

G

CYTB

c.489A > G

p.Ter163Trpext*?

1 (2.04%)

4 (6.90%)

0.236

0.468

0.281

0.030–2.604

A16164G

G

ND6

c.-1491T > C

 

3 (6.12%)

0 (0%)

0.056

0.186

0.939

0.874–1.008

T16172C

C

ND6

c.-1499A > G

 

10 (20.41%)

3 (5.17%)

0.016*

0.035*

4.701

1.214–18.204

C16291T

T

ND6

c.-1618G > A

 

4 (8.16%)

1 (1.72%)

0.116

0.266

5.067

0.547–46.926

A16316G

G

ND6

c.-1643T > C

 

4 (8.16%)

1 (1.72%)

0.116

0.266

5.067

0.547–46.926

G16390A

A

ND6

c.-1717C > T

 

0 (0%)

3 (5.17%)

0.106

0.304

1.055

0.993–1.120

T16519C

C

ND6

c.-1846A > G

 

17 (34.69%)

39 (67.24%)

0.001**

0.002**

0.259

0.116–0.578

  1. P-value, Person test; P-adjust, adjust Person’s value; OR, odds ratio; CI, confidence interval. *, P-value < 0.05; **, P-value < 0.01
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