Table 2 Number and frequency of high-risk CNV carriers along with number and fraction of diagnosed SNPDs among carriers.

From: Polygenic burden has broader impact on health, cognition, and socioeconomic outcomes than most rare and high-risk copy number variants

 

Total

ID

SCZ

EPI

BD

MDD

Any SNPDa

n

%

n

%

n

%

n

%

n

%

n

%

n

%

FINRISKb

23,053

100%

55

0.24%

118

0.51%

501

2.17%

158

0.69%

1416

6.14%

843

3.66%

DECIPHER CNV

64

0.28%

1

1.56%

1

1.56%

1

1.56%

1

1.56%

7

10.94%

3

4.69%

ID gene deletion

43

0.19%

1

2.33%

1

2.33%

3

6.98%

1

2.33%

6

13.95%

5

11.63%

High pLI gene deletion

264

1.15%

0

0.00%

1

0.38%

5

1.89%

1

0.38%

15

5.68%

8

3.03%

>1 Mb deletion

129

0.56%

2

1.55%

2

1.55%

3

2.33%

1

0.78%

14

10.85%

7

5.43%

>1 Mb duplication

202

0.88%

2

0.99%

2

0.99%

5

2.48%

1

0.50%

17

8.42%

8

3.96%

Any high-risk CNVc

573

2.49%

4

0.70%

4

0.70%

13

2.27%

3

0.52%

46

8.03%

22

3.84%

NFBC1966b

4895

100%

28

0.57%

62

1.27%

105

2.15%

40

0.82%

276

5.64%

251

5.13%

DECIPHER CNV

37

0.76%

2

5.41%

2

5.41%

0

0.00%

0

0.00%

5

13.51%

5

13.51%

ID gene deletion

17

0.35%

0

0.00%

1

5.88%

1

5.88%

1

5.88%

3

17.65%

3

17.65%

High pLI gene deletion

78

1.55%

2

2.56%

3

3.85%

4

5.13%

1

1.28%

11

14.10%

9

11.54%

>1 Mb deletion

38

0.78%

2

5.26%

2

5.26%

0

0.00%

1

2.63%

6

15.79%

5

13.16%

>1 Mb duplication

53

1.08%

1

1.89%

0

0.00%

1

1.89%

0

0.00%

4

7.55%

3

5.66%

Any high-risk CNVc

171

3.49%

3

1.75%

5

2.92%

5

2.92%

1

0.58%

18

10.53%

14

8.19%

  1. The first column shows the total number of participants in the cohort, along with the total number of carriers and their frequency. Consecutive columns indicate a number of carriers that have the relevant SNPD phenotype and the fraction of affected carriers. Not included are the diagnoses of childhood behavioral disorders and disorders of psychiatric development, due to the very low frequency of cases; they were however included in the “any SNPD” category. The percentage presented in the phenotype column is the fraction of carriers that have the disorder.
  2. ID intellectual disability, SCZ schizophrenia, EPI epilepsy, BD bipolar disorder, MDD major depressive disorder.
  3. aDepression was not included in this joint category.
  4. bThese rows indicate the total number of participants in the cohort and the total number of cases with an SNPD diagnosis.
  5. cThe number indicates individuals with any high-risk CNV. One individual might have more than one high-risk CNV, and one high-risk CNV can belong to several categories.
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