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Table 1 Gene regions (≥ 100 Kbp) of the most frequent copy number (CN) variation in patients with Addison's disease detected by gene chip.

From: Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

Patient ID

CN

Chromosome

Genes

CN Frequency (%)1

P-value2

    

AD

n = 26

Controls

n = 361

 

14, 17, 19, 20

1

3

≥ 4

1q21.1

FCGR1C

15.3

0

0

2.2

0.8

0.3

P = 0.012

22

10, 19, 20, 26

2, 3

0

1

3

4q13.2

UGT2B17

3.8

15.3

7.7

1.9

1.4

5.0

P = 0.0018

8, 9, 13, 14, 15, 19, 22, 26

0

1

4q13.2

UGT2B28

0

30.7

0.3

10

P = 0.01

11, 16, 21, 26

19, 22

2, 5, 9, 10, 12, 13, 15, 17, 20

0

3

≥ 4

8p11.23-11.22

ADAM3A

15.4

7.7

34.6

3.6

0.3

9.7

P = 3.3 × 10-7

9, 14, 21, 23

1

3

8p23.1

DEFB cluster

15.3

0

5.8

2.2

P = 0.165

5, 8, 10, 13, 16, 19, 20, 22, 23, 24

12, 15, 26

1

3

≥ 4

17q21.31

KIAA1267

38.4

11.5

0

8.5

3.3

0.6

P = 3.3 × 10-6

  1. The exact size and localisation of the CNVs varied slightly between patients, but in every case encompassed the listed genes.
  2. 1CN frequency (%) is the percentage of the individuals with the given copy number. 2CN frequencies in patients with Addison's disease (AD) were compared to controls and P-values for significance were calculated by Fisher's Exact test.