Table 2 Risk allele frequencies (RAF) in isolated autoimmune Addison’s disease and autoimmune polyendocrine syndrome type 2 (APS-2).

From: GWAS for autoimmune Addison’s disease identifies multiple risk loci and highlights AIRE in disease susceptibility

Locusa

SNP

RAF controls

RAF isolated AAD

OR

P

RAF APS-2

OR (95% CI)

P

PTPN22

rs2476601

0.11

0.18

1.72 (1.42–2.08)

1.8 × 10−8

0.17

1.72 (1.46–2.02)

7.9 × 10−11

CTLA4

rs11571303

0.61

0.67

1.28 (1.11–1.48)

8.8 × 10−4

0.70

1.46 (1.29–1.66)

4.4 × 10−9

LPP

rs1464510

0.43

0.53

1.46 (1.27–1.67)

6.4 × 10−8

0.50

1.33 (1.19–1.5)

8.1 × 10−7

HLA-DQB1

rs3998178

0.19

0.51

5.72 (4.81–6.81)

6.5 × 10−86

0.52

6.31 (5.42–7.35)

2.6 × 10−123

BACH2

rs10806425

0.37

0.50

1.66 (1.44–1.91)

2.0 × 10−12

0.51

1.71 (1.52–1.93)

1.7 × 10−18

SH2B3

rs7137828

0.46

0.52

1.29 (1.12–1.49)

4.0 × 10−4

0.52

1.28 (1.13–1.44)

5.9 × 10−5

SIGLEC5

rs8112143

0.047

0.077

2.04 (1.49–2.8)

8.3 × 10−6

0.071

1.76 (1.33–2.31)

5.7 × 10−5

UBASH3A

rs11203203

0.35

0.40

1.24 (1.07–1.43)

3.6 × 10−3

0.44

1.4 (1.24–1.58)

5.9 × 10−8

AIRE

rs74203920

0.020

0.072

3.73 (2.74–5.09)

8.0 × 10−17

0.063

3.24 (2.43–4.31)

7.7 × 10−16

AIRE

rs2075876

0.90

0.94

1.85 (1.38–2.47)

3.5 × 10−5

0.96

2.67 (2.01–3.55)

9.7 × 10−12

  1. Odds ratios and P values were estimated using logistic regression in isolated AAD (n = 443) and APS-2 (n = 682), respectively, compared to 4097 controls. Only loci with P < 5 x 10−8 in the overall analysis were tested.
  2. a The association peaks in chromosomes 1, 2, 12, and 19, span more than one gene, and the prioritized genes are reported. For HLA, the gene closest to the top SNP is reported.
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