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Table 2 Genotype frequencies in rheumatoid arthritis, and in autoantibody-positive/autoantibody-negative rheumatoid arthritis, relative to controls

From: Evaluation of the rheumatoid arthritis susceptibility loci HLA-DRB1, PTPN22, OLIG3/TNFAIP3, STAT4 and TRAF1/C5 in an inception cohort

RA cohort

Controls, n(%)

Cases, n(%)

Per-allele OR (95% CI)

P trend

Autoantibody-positive RA

Per-allele OR (95% CI)

P trend

Autoantibody-negative RA

Per-allele OR (95% CI)

P trend

HLA-DRB1 shared epitope

n = 1,351

n = 968

  

n = 643

  

n = 298

  

   Negative

717 (53.1)

290 (30.0)

  

138 (21.5)

  

144 (48.3)

  

   One copy

517 (38.3)

475 (49.1)

2.12 (1.87 to 2.40)

<0.0001

332 (51.6)

2.85 (2.46 to 3.29)

<0.0001

129 (43.3)

1.11 (0.92 to 1.35)

0.279

   Two copies

117 (8.7)

203 (21.0)

  

173 (26.9)

  

25 (8.4)

  

PTPN22 (rs2476601)

n = 3,492

n = 855

  

n = 572

  

n = 259

  

   GG

2,817 (80.7)

624 (73.0)

  

413 (72.2)

  

195 (75.3)

  

   GA

635 (18.2)

212 (24.8)

1.50 (1.28 to 1.75)

<0.0001

144 (25.2)

1.56 (1.31 to 1.87)

<0.0001

60 (23.2)

1.32 (1.01 to 1.72)

0.039

   AA

40 (1.1)

19 (2.2)

  

15 (2.6)

  

4 (1.5)

  

OLIG3/TNFAIP3 (rs6920220)

n = 3,478

n = 810

  

n = 545

  

n = 242

  

   GG

2,146 (61.7)

464 (57.3)

  

294 (53.9)

  

155 (64.0)

  

   GA

1,197 (34.4)

303 (37.4)

1.19 (1.04 to 1.35)

0.009

220 (40.4)

1.32 (1.14 to 1.54)

<0.0001

77 (31.8)

0.94 (0.74 to 1.18)

0.578

   AA

135 (3.9)

43 (5.3)

  

31 (5.7)

  

10 (4.1)

  

STAT4 (rs7574865)

n = 3,520

n = 767

  

n = 515

  

n = 234

  

   GG

2,151 (61.1)

451 (58.8)

  

294 (57.1)

  

143 (61.1)

  

   GT

1,208 (34.3)

264 (34.4)

1.14 (1.00 to 1.29)

0.054

190 (36.9)

1.17 (1.00 to 1.36)

0.048

70 (29.9)

1.13 (0.91 to 1.41)

0.266

   TT

161 (4.6)

52 (6.8)

  

31 (6.0)

  

21 (9.0)

  

TRAF1/C5 (rs10760130)

n = 3,506

n = 763

  

n = 512

  

n = 233

  

   AA

1,096 (31.3)

224 (29.4)

  

151 (29.5)

  

69 (29.6)

  

   GA

1,742 (49.7)

363 (47.6)

1.13 (1.01 to 1.26)

0.035

238 (46.5)

1.15 (1.00 to 1.31)

0.043

114 (48.9)

1.09 (0.90 to 1.31)

0.392

   GG

668 (19.1)

176 (23.1)

  

123 (24.0)

  

50 (21.5)

  
  1. CI, confidence interval; OR, odds ratio; RA, rheumatoid arthritis.