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Table 1 The genotype and allele frequencies of polymorphisms in the NR1H3 gene

From: Liver X receptors alpha gene (NR1H3) promoter polymorphisms are associated with systemic lupus erythematosus in Koreans

Loci

Genotype

Our

Replication

Combine

  

SLE (n = 300)

NC (n = 217)

P value

OR (95% CI)

SLE (n = 160)

NC (n = 143)

P value

OR (95% CI)

SLE (n = 460)

NC (n = 360)

P value

OR (95% CI)

-1851 T > C

TT

172 (57.3%)

115 (53.0%)

co : 0.281

1.171 (0.879 ~ 1.559)

93 (58.1%)

78 (54.5%)

co : 0.578

1.107 (0.577 ~ 1.851)

265 (57.6%)

193 (53.6%)

co : 0.215

1.151 (0.921 ~ 1.438)

 

TC

112 (37.3%)

57 (40.1%)

do : 0.507

1.132 (0.786 ~ 1.630)

55 (34.4%)

53 (37.1%)

do : 0.816

1.051 (0.689 ~ 1.603)

167 (36.3%)

140 (38.9%)

do : 0.425

1.118 (0.723 ~ 2.163)

 

CC

16 (5.3%)

15 (6.9%)

re : 0.316

1.094 (0.918 ~ 1.305)

12 (7.5%)

12 (8.4%)

re : 0.557

1.071 (0.852 ~ 1.347)

28 (6.1%)

27 (7.5%)

re : 0.252

1.085 (0.944 ~ 1.246)

 

q.

0.240

0.270

0.285

1.080 (0.938 ~ 1.245)

0.250

0.270

0.567

1.055 (0.878 ~ 1.267)

0.242

0.269

0.212

1.074 (0.960 ~ 1.201)

 

HWE

  

0.790

   

0.487

   

0.817

 

-1830 T > C

TT

238 (79.3%)

195 (89.9%)

co : 0.001

0.431 (0.260 ~ 0.714)

131 (81.9%)

129 (90.2%)

co : 0.034

0.483 (0.246 ~ 0.948)

369 (80.2%)

324 (90.0%)

co : <0.001

0.447 (0.299 ~ 0.668)

 

TC

58 (19.3%)

22 (10.1%)

do : 0.999

0.000 (0.000 ~ NA)

28 (17.5%)

14 (9.8%)

do : 1.000

0.000 (0.000 ~ NA)

86 (18.7%)

36 (10.0%)

do : 0.999

0.000 (0.000 ~ NA)

 

CC

4 (1.3%)

0 (0.0%)

re : 0.002

0.658 (0.507 ~ 0.855)

1 (0.6%)

0 (0.00%)

re : 0.041

0.698 (0.495 ~ 0.985)

5 (1.1%)

0 (0.0%)

re : <0.001

0.671 (0.546 ~ 0.826)

 

q.

0.110

0.051

0.001

0.658 (0.512 ~ 0.512)

0.090

0.050

0.038

0.706 (0.508 ~ 0.981)

0.104

0.05

<0.001

0.672 (0.552 ~ 0.820)

 

HWE

  

0.432

   

0.538

   

0.318

 

-1003G > A

GG

250 (83.3%)

201 (92.6%)

co : 0.002

0.396 (0.223 ~ 0.705)

139 (86.9%)

131 (91.6%)

co : 0.194

0.606 (0.285 ~ 1.289)

389 (84.6%)

332 (92.2%)

co : 0.001

0.460 (0.293 ~ 0.721)

 

GA

47 (15.7%)

16 (7.4%)

do : 0.999

0.000 (0.000 ~ NA)

21 (13.1%)

12 (8.4%)

do : NA

NA

63 (14.8%)

28 (7.8%)

do : 0.999

0.000 (0.000 ~ NA)

 

AA

3 (1.0%)

0 (0.0%)

re : 0.002

0.629 (0.468 ~ 0.847)

0 (0.0%)

0 (0.0%)

re : 0.194

0.779 (0.534 ~ 1.135)

3 (0.7%)

0 (0.0%)

re : 0.001

0.680 (0.540 ~ 0.856)

 

q.

0.088

0.037

0.001

0.626 (0.470 ~ 0.835)

0.070

0.040

0.209

0.791 (0.549 ~ 1.140)

0.080

0.039

0.001

0.680 (0.544 ~ 0.850)

 

HWE

  

0.573

   

0.600

   

0.443

 

-840 C > A and -115G > A

GG

235 (78.3%)

195 (89.9%)

co : <0.001

0.408 (0.246 ~ 0.675)

131 (81.88%)

129 (90.21%)

co : 0.034

0.483 (0.246 ~ 0.948)

366 (79.6%)

324 (90.0%)

co : <0.001

0.430 (0.288 ~ 0.642)

 

GA

61 (20.3%)

22 (10.1%)

do : 0.999

0.000 (0.000 ~ NA)

28 (17.5%)

14 (9.79%)

do : 1.000

0.000 (0.000 ~ NA)

89 (19.3%)

36 (10.0%)

do : 0.999

0.000 (0.000 ~ NA)

 

AA

4 (1.3%)

0 (0.0%)

re : 0.001

0.639 (0.493 ~ 0.829)

1 (0.63%)

0 (0.00%)

re : 0.041

0.698 (0.495 ~ 0.985)

5 (1.1%)

0 (0.0%)

re : <0.001

0.658 (0.535 ~ 0.808)

 

q.

0.115

0.051

<0.001

0.642 (0.501 ~ 0.823)

0.090

0.050

0.038

0.706 (0.508 ~ 0.981)

0.108

0.050

<0.001

0.661 (0.542 ~ 0.805)

 

HWE

  

0.432

   

0.538

   

0.318

 
  1. Each P value was calculated with co-dominant (co), dominant (do) and recessive (re) models. Logistic regression analysis was applied to control for age and sex as covariables. Each q row’s P value was analyzed by the Chi square test. Two genetic polymorphisms of the NR1H3 gene, -840 C > A and -115 G > A, were in complete linkage disequilibrium. CI, confidence interval; HWE, Hardy–Weinberg equilibrium; NA, not applicable; OR, odds ratio; q., minor allele frequency.
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Arthritis Research & Therapy

ISSN: 1478-6362

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