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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.