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. Author manuscript; available in PMC: 2014 Aug 1.
Published in final edited form as: Mol Neurobiol. 2013 Feb 22;48(1):157–168. doi: 10.1007/s12035-013-8421-y

Table 2.

Genetic polymorphism studies involved in stroke related to homocysteine metabolism pathway

S. no. Gene Mutation Significance in stroke Odds ratio (95 % CI) Reference
1 MTHFR (1p36.3) 677 C→T Associated with increased Hcy levels and stroke risk 1.26 (1.14–1.40) [10, 15, 22]
2 CBS (21q22.3) 833 C→T
919G→A
C833T associated with higher plasma Hcy levels and correlated with stroke 1.57 (1.02–2.41) [9, 11]
3 MS (1q43) 2,756 A→G Associated with HHcy and risk factor for thromboembolic events 1.58 [24]
4 MTRR (5p15.31) rs16879248 (T/C) Associated with Hcy metabolism and ischemia stroke risk 0.75 (0.61–0.91) [14]
5 SHMT1 (17p11) rs11868708 (T/C) Associated with Hcy metabolism and ischemia stroke risk 1.24 (1.05–1.46) [14]
6 TCN2 (22q12) rs11703570 (C/T) Associated with Hcy metabolism and ischemia stroke risk 1.28 (1.04–1.57) [14]
7 NNMT (11q23) rs694539 (A/G) Influences plasma Hcy levels: the GAIT project [17]