Skip to main content

Advertisement

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