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Table 4 Allele and genotype frequencies of CCM3-SERPINI1 promoter polymorphisms

From: CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

 

CCM patients

Control

χ2

p-value

 

No.

(%)

No.

(%)

  

c.- 639 T > C

TT

54

(90)

176

(50)

  

TC

6

(10)

139

(40)

33.2

0.0001

CC

0

 

35

(10)

  

T

114

(95)

491

(70)

32.7

0.0001

C

6

(5)

209

(30)

  

c.-591 T > C

TT

53

(88)

176

(50)

30.6

0.0001

TC

7

(12)

138

(39)

CC

0

 

36

(10)

T

113

(94)

490

(70)

30.7

0.0001

C

7

(6)

210

(30)

  1. Position relative to the first position of the starting codon ATG (in direction of SERPINI1)