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Table 1 Influence of genetic variants on VTE in protein S, protein C, and antithrombin genes in East Asian population

From: Thrombophilia in East Asian countries: are there any genetic differences in these countries?

Gene name: Nucleotide change

Amino acid change

No. of deficiency/total (%)

Odds ratio (95 % CI)

Population

Reference

VTE

Controls

Protein S

 c.586A>G

K196E

5/85

(5.8 %)

5/304

(1.6 %)

3.74 (1.06–13.2)

Japanese

Kinoshita et al., 2005 [10]

 c.586A>G

K196E

15/161

(9.3 %)

66/3651

(1.8 %)

5.58 (3.11–10.01)

Japanese

Kimura et al., 2006 [4]

 c.586A>G

K196E

6/60

(10.0 %)

3/234

(1.3 %)

8.56 (2.07–35.30)

Japanese

Ikejiri et al., 2010 [11]

Protein C

 c.565C>T

R189W

5/116

(4.3 %)

11/1292

(0.9 %)

5.10 (1.70–14.8)

Chinese

Tsay et al., 2004 [26]

 c.565C>T

R189W

59/1003

(5.9 %)

9/1031

(0.9 %)

7.10 (3.50–14.39)

Chinese

Tang et al., 2012 [27]

 c.574_576del

K193del

68/1003

(6.8 %)

25/1031

(2.4 %)

2.93 (1.84–4.67)

Chinese

Tang et al., 2012 [28]

 c.631C>T

R211W

14/500a

(2.8 %)

6/2953b

(0.2 %)

n.d.

Korean

Kim et al., 2014 [16]

 c.1218G>A

M406I

9/500a

(1.8 %)

0/2953b

(0.0 %)

n.d.

Korean

Kim et al., 2014 [16]

Antithrombin

 c.235C>T

R79C

2/500a

(0.4 %)

7/3046b

(0.2 %)

n.d.

Korean

Kim et al., 2014 [16]

 c.442T>C

S148P

1/500a

(0.2 %)

5/3046b

(0.2 %)

n.d.

Korean

Kim et al., 2014 [16]

  1. aGenetic analysis was performed in VTE patients with anticoagulant activity of less than 2.5 percentile of the local reference intervals. bGenetic analysis was performed in population individuals with anticoagulant activity of less than 1 percentile of the population. n.d. not determined