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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