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Table 2 Genotype frequency distribution and risk associated with the different variants under different genetic models

From: CLOCK gene 3’UTR and exon 9 polymorphisms show a strong association with essential hypertension in a North Indian population

Gene Name

SNP

Genetic Model

Genotype

Controls$

Cases$

Allelic frequency

HWE*

Risk allele

P value#

OR# (95%CI)

Cases

Controls

  

BMAL1

rs6486121 Intron

(C> T)

Codominant model

CC

CC vs. CT

CC vs. TT

169 (33.8%)

251 (50.2%)

80 (16.0%)

145 (35.8%)

191 (47.2%)

69 (17.0%)

C = 0.59

T = 0.41

C = 0.59

T = 0.41

0.46

None

Reference

0.41

0.95

1

0.88 (0.66-1.19)

1.01 (0.68-1.50)

Dominant model

CC vs.

CT+TT

169 (33.8%)

331 (66.2%)

145 (35.8%)

260 (64.2%)

Reference

0.52

1

0.91 (0.69-1.21)

Recessive model

CC+CT vs. TT

420 (84.0%)

80 (16.0%)

336 (83.0%)

69 (17.0%)

Reference

0.64

1

1.09 (0.76-1.55)

CLOCK

rs1801260

3’UTR

(3111T> C)

Codominant model

TT

TT vs. TC

TT vs. CC

199 (39.4%)

245 (48.5%)

61 (12.1%)

105 (25.9%)

217 (53.6%)

83 (20.5%)

T = 0.64

C = 0.36

T = 0.53

C = 0.47

0.29

C

Reference

0.001

<0.0001

1

1.67 (1.23-2.25)

2.69 (1.78-4.06)

Dominant model

TT vs. TC+CC

199 (39.4%)

306 (60.6%)

105 (25.9%)

300 (74.1%)

Reference

<0.0001

1

1.87 (1.4-2.48)

Recessive model

TT+TC vs. CC

444 (87.9%)

61 (12.1%)

322 (79.5%)

83 (20.5%)

Reference

0.0004

1

1.96 (1.36-2.83)

CLOCK

rs34789226

Exon 9

862T> C

(Ile169Val)

Codominant model

TT

TT vs. TC

TT vs. CC

121 (28.0%)

218 (50.4%)

93 (21.5%)

144 (35.7%)

165 (40.9%)

94 (23.3%)

T = 0.53

C = 0.47

T = 0.56

C = 0.44

0.85

T

Reference

0.003

0.45

1

0.61 (0.45-0.85)

0.86 (0.59-1.26)

Dominant model

TT vs. TC+CC

121 (28.0%)

311 (72.0%)

144 (35.7%)

259 (64.3%)

Reference

0.015

1

0.69 (0.51-0.93)

Recessive model

TT+TC vs. CC

339 (78.5%)

93 (21.5%)

309 (76.7%)

94 (23.3%)

Reference

0.42

1

1.14 (0.82-1.59)

  1. *Hardy–Weinberg equilibrium (HWE) corresponds to controls. #Values adjusted for age, sex and BMI. $Due to genotyping failure, the actual number of controls and cases in rs34789226 group is 432 and 403, respectively. In rs6486121 group, the actual number of controls is 500. Reference refers to the genotype(s) with which the other genotype(s) was/were compared to in order to calculate the OR (Odds ratio) and p values. Logistical Regression was used to calculate the OR and 95% CI (Confidence Interval) and Pearson’s chi square test to calculate the HWE. Vs, verses
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BMC Medical Genomics

ISSN: 1755-8794

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