Table 3 Other immune-associated disease with a 16p13 genetic risk locusa

From: Genetic variants at the 16p13 locus confer risk for eosinophilic esophagitis

Reference study (by first author)

Disease

Marker

Alleles

P value

OR

MAF

r2 with rs12924112

D′ with rs12924112

Barrett (Nat Genet)

T1D

rs12708716

G>A

2.2e−16

Not Available

0.319

0.8268

0.9093

Hakonarson (Nature)

T1D

rs12708716

G>A

4.92e−7

0.84

0.350

0.8268

0.9093

Todd (Nat Genet)

T1D

rs12708716

G>A

7.43e−14

0.81

0.322

0.8268

0.9093

Patsopoulos (Ann Neurol)

MS

rs12708716

G>A

1.08e−4

0.90

0.350

0.8268

0.9093

Onengut-Gumuscu (Nat Genet)

T1D

rs12927355

T>C

3e−22

0.82

0.320

0.7341

0.9237

Beecham (Nat Genet)

MS

rs12927355

T>C

6.4e−46

0.83

0.320

0.7341

0.9237

Bradfield (PLoS Genet)

T1D

rs12927355

T>C

1.91e−16

0.80

Not Available

0.734

0.924

Liu (Nat Genet)

PBC

rs12708715

T>C

2.19e−13

0.78

0.320

0.704

0.9004

Bentham (Nat Genet)

SLE

rs9652601

A>G

7.42e−17

0.83

0.332

0.6782

0.87

Cordell (Nat Commun)

PBC

rs12924729

A>G

2.39e−14

0.76

0.330

0.6751

0.8508

Ferreira (JACI)

AHF

rs62026376

T>C

1e−8

1.17

0.26–0.28

0.5825

0.9876

Sawcer (Nature)

MS

rs7200786

G>A

8.5e−17

1.15

0.463

0.4578

0.9262

Betz (Nat Commun)

AA

rs3862469

T>C

1.7e−7

0.82

0.330

0.3382

0.6356

Ellinghaus (Nat Genet)

AD

rs2041733

C>T

1.00e−11

1.26

0.49

0.0667

0.3614

Hinks (Nat Genet)

JIA

rs66718203

C>G

4.46e−7

0.81

0.180

0.0073

0.2639

Beecham (Nat Genet)

MS

rs6498184

C>T

7.4e−18

0.87

0.190

0.0073

0.2639

Dubois (Nat Genet)

CEL

rs12928822

C>T

3.12e−8

0.86

0.161

0.0067

0.2511

Tsoi (Nat Genet)

PSO

rs367569

C>T

4.9e−8

0.88

0.291

0.0014

0.0774

  1. T1D type I diabetes, MS multiple sclerosis, PBC primary biliary cirrhosis, SLE system lupus erythematosus, AA alopecia areata, JIA juvenile idiopathic arthritis, CEL celiac disease, AD atopic dermatitis, AHF asthma with hay fever, PSO psoriasis
  2. aStudies assessing immune-associated phenotypes that reported a genetic association at 16p13 were identified. The genetic variants with the lowest (most highly associated) P value for each study are given along with the alleles (major allele>minor allele) and that variant’s P value, odds ratio (OR), and minor allele frequency (MAF). rs12924112 was the most highly associated variant at this locus for EoE risk. The linkage disequilibrium between the top variant of other studies and the top EoE variant is given in the context of r2 and D′
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