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Table 2 Genotype and allele frequencies for the five polymorphisms in patients and healthy controls

From: Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier

Polymorphism

HCM* N=205

Hypertensive LVH N = 145

Controls

N = 300

5-HT2A (c.102 T/C)

Rs6313

   

TT

45 (22%)

24 (17%)

60 (20%)

TC

105 (51%)

79 (54%)

149 (50%

CC

55 (27%)

42 (29%)

91 (30%)

T

0.47

0.43

0.45

C

0.53

0.57

0.55

5-HTT (l/s)

Rs4795541

   

ll

72 (35%)

48 (33%)

91 (30%)

ls

102 (50%)

71 (49%)

147 (49%)

ss

31 (15%)

26 (18%)

62 (21%)

l

0.60

0.58

0.55

s

0.40

0.42

0.45

ACE (I/D)

Rs4646994

   

DD

72 (35%)

54 (37%)

119 (40%)

ID

100 (48%)

68 (45%)

135 (45%)

II

35 (17%)

23 (15%)

46 (15%)

D

0.59

0.61

0.62

I

0.41

0.39

0.38

AGT (c.803 T/C)

Rs699

   

MM

64 (31%)

54 (37%)

95 (32%)

MT

100 (49%)

68 (48%)

145 (48%)

TT

41 (19%)

22 (15%)

60 (20%)

M

0.55

0.61

0.56

T

0.45

0.39

0.44

AT1R (c.1166 A/C)#

   

Rs5182

   

AA

84 (41%)

72 (50%)

156 (53%)

AC

94 (46%)

60 (41%)

114 (37%)

CC

27 (13%)

13 (9%)

30 (10%)

A

0.64

0.70

0.71

C

0.36

0.30

0.29

  1. *Patients without sarcomeric mutations.
  2. # HCM vs. controls: p = 0.015; OR = 1.56 (95%CI = 1.09-2.23); AC + CC HCM patients vs. controls.