Background
Review
Prevalence and unique geographical profile of PS-K196E mutation
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] |