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Table 1 List of 28 polymorphisms in 20 candidate genes used in this study

From: Genetic risk factors for cerebrovascular disease in children with sickle cell disease: design of a case-control association study and genomewide screen

  GENE POLYMORPHISM REFERENCE   GENE POLYMORPHISM REFERENCE
1 Factor V R506Q (LeidenG1691A) 4 15 GpIIb/IIIa Leu33Pro (PLA2) 16
2 Factor V R485K (A1628G) 5 16 GpIb IX-V: GpIbα VNTR (D,C,B,A):C/B 17
3 Factor V HR2 (His1299Arg) 6 17 GpIa/IIa:α2 gene nt 807 C/T 18
4 Factor V HR3 (His1254Arg) 1 18 TNFα: 308 G/A 19
5 Prothrombin 20210G/A 4 19 Apo A1 C93T: G121A 20
6 MTHFR C677T 7,8 20 Apo E Cys112Arg 21
7 ACE I/D 2,3 21 VCAM-1 G1385C 22
8 Fibrinogen – Beta chain 455 G/A 9 22 E-Selectin G98T 23
9 Fibrinogen – Beta chain 148 C/T 10 23 E-Selectin C1839T L554F 23
10 Factor VII R353Q (Arg353Gln) 11 24 E-Selectin A561C S128R 24
11 FactorXIII Val34Leu 12 25 L-Selectin C188G T49S 24
12 TM Ala455Val:C/T 13 26 L-Selectin T668C F206L 25
13 TM A25Thr:G/A 14 27 P-Selectin C715A 26
14 PAI-1 675 4G/5G 15 28 ICAM-I G778A G214R 23
  1. Note: MTHFR, Methylenetetrahydrofolate reductase; ACE, Angiotensin converting enzyme; TM, Thrombomodulin; PAI-1, Plasminogen activator inhibitor-1; Gp, platelet glycoprotein; TNFα, Tumor necrosis factor α; VCAM-1, vascular cell adhesion molecule 1; ICAM-1, intercellular adhesion molecule 1