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Table 1 Genotype data at rs11594656, rs41295061 and rs2104286 for SLE and AAV

From: Contrasting genetic association of IL2RAwith SLE and ANCA – associated vasculitis

 

SLE

AAV

 

KRUK cases

Imperial cases

Imperial trios

 

rs11594656 T>A

    

Genotyped cases

208

441

481

670

TT, TA, AA

148, 52, 8

276, 145, 20

 

382, 252, 36

Genotyped controls

4401

4449

310 *

8850

TT, TA, AA

2486, 1655, 260

2542, 1640, 267

 

5028, 3295, 527

MAF in cases

0.16

0.20

-

0.24

P value (1 d.f. test)

1 × 10-4

0.0221

2.8 × 10-3

0.7481

OR for minor allele

0.595

0.82

-

1.02

95% CI for OR

0.4570 – 0.7756

0.6931 – 0.9723

-

0.8972 – 1.163

rs41295061 C>A

    

Genotyped cases

208

421

471

675

CC, CA, AA

172, 33, 3

330, 80, 11

 

569, 102, 4

Genotyped controls

4438

4498

137 *

8936

CC, CA, AA

3603, 790, 45

3603, 832, 63

 

7206, 1622, 108

MAF in cases

0.09

0.12

-

0.08

P value (1 d.f. test)

0.7187

0.1899

0.2000

0.0122

OR for minor allele

0.94

1.154

-

0.7739

95% CI for OR

0.6710 – 1.317

0.9307 – 1.438

-

0.6330 – 0.9461

rs2104286 A>G

    

Genotyped cases

198

436

471

380

AA, AG, GG

113, 74, 11

234, 158, 44

 

207, 148, 25

Genotyped controls

3475

3529

353 *

7004

AA, AG, GG

1823, 1403, 249

1825, 1452, 252

 

3648, 2855, 501

MAF in cases

0.24

0.28

-

0.26

P value (1 d.f. test)

0.1760

0.7568

0.558

0.3727

OR for minor allele

1.177

0.9756

-

1.078

95% CI for OR

0.9294 – 1.490

0.8343 – 1.141

-

0.9133 – 1.273

  1. MAF minor allele frequency; OR odds ratio; CI confidence interval; * informative transmissions. Genotype frequencies are shown for the case control cohorts.