Table 1 NRXN1 deletions and associated risk of psychiatric disorders

From: Analysis of exonic deletions in a large population study provides novel insights into NRXN1 pathology

Exposure

Outcomea

Naffb

ORc

CI95%c

Pd

PFDRd

Main analysis (all exonic vs all non-exonic deletions)

 Exonic

Any

108

2.13

1.39–3.26

0.00048

0.0067

 Exonic

ADHD

41

2.01

1.23–3.31

0.0057

0.040

 Exonic

ASD

52

3.05

1.87–4.97

7.4 × 10−6

0.00031

 Exonic

MDD

31

1.46

0.83–2.56

0.19

0.53

 Exonic

SSD

12

1.41

0.69–2.90

0.35

0.80

 Exonic

SCZ

8

1.88

0.81–4.33

0.14

0.41

 Non-exonic

Any

147

1.05

0.79–1.39

0.74

0.86

 Non-exonic

ADHD

51

1.04

0.72–1.51

0.82

0.86

 Non-exonic

ASD

41

1.06

0.71–1.58

0.79

0.86

 Non-exonic

MDD

49

0.91

0.61–1.35

0.64

0.86

 Non-exonic

SSD

37

1.48

0.96–2.29

0.078

0.27

 Non-exonic

SCZ

23

1.90

1.13–3.1907

0.0200

0.090

Secondary analysis (alpha vs beta exonic, and segregating vs non-segregating non-exonic deletions)

 Exonic alpha

Any

68

2.83

1.56–5.13

0.0006

0.0067

 Exonic alpha

ADHD

28

3.02

1.54–5.94

0.0013

0.011

 Exonic alpha

ASD

29

3.75

1.88–7.47

0.00020

0.0036

 Exonic alpha

MDD

20

2.30

1.02–5.18

0.045

0.19

 Exonic alpha

SSD

>7

2.29

0.88–5.97

0.091

0.30

 Exonic beta

Any

40

1.49

0.81–2.75

0.20

0.53

 Exonic beta

ADHD

13

1.15

0.53–2.47

0.72

0.86

 Exonic beta

ASD

23

2.45

1.22–4.90

0.011

0.068

 Exonic beta

MDD

11

0.89

0.39–2.03

0.78

0.86

 Exonic beta

SSD

<5

0.78

0.24–2.46

0.67

0.86

 Non-exonic segregating

Any

68

1.19

0.77–1.82

0.43

0.80

 Non-exonic segregating

ADHD

23

1.22

0.70–2.13

0.49

0.80

 Non-exonic segregating

ASD

18

1.23

0.66–2.28

0.51

0.80

 Non-exonic segregating

MDD

24

1.06

0.57–1.96

0.86

0.86

 Non-exonic segregating

SSD

20

2.19

1.15–4.16

0.017

0.080

 Non-exonic other

Any

79

0.95

0.66–1.38

0.79

0.86

 Non-exonic other

ADHD

28

0.93

0.57–1.51

0.77

0.86

 Non-exonic other

ASD

23

0.95

0.56–1.61

0.84

0.86

 Non-exonic other

MDD

25

0.81

0.47–1.38

0.44

0.80

 Non-exonic other

SSD

17

1.06

0.58–1.95

0.85

0.86

Tertiary analysis (segregating non-exonic deletion vs other carriers of the underlying haplotype)

 Segregating deletion carriers

Any

68

1.19

0.77–1.82

0.43

0.80

 Segregating deletion carriers

ADHD

23

1.22

0.70–2.13

0.49

0.80

 Segregating deletion carriers

ASD

18

1.23

0.66–2.28

0.52

0.80

 Segregating deletion carriers

MDD

24

1.06

0.57–1.96

0.86

0.86

 Segregating deletion carriers

SSD

20

2.19

1.15–4.16

0.017

0.080

 Other top haplotype carriers

Any

1512

0.96

0.88–1.05

0.37

0.80

 Other top haplotype carriers

ADHD

530

0.99

0.88–1.10

0.80

0.86

 Other top haplotype carriers

ASD

442

0.97

0.86–1.10

0.69

0.86

 Other top haplotype carriers

MDD

592

0.94

0.84–1.06

0.35

0.80

 Other top haplotype carriers

SSD

250

0.95

0.81–1.10

0.49

0.80

Quaternary analysis (same as above for SSD, but only in unrelated subjects of European ancestry)

 Segregating deletion carriers

SSD

14

1.93

0.94–3.97

0.074

0.27

 Other top haplotype carriers

SSD

190

0.89

0.75–1.06

0.20

0.53

  1. aThe risk associated with different classes of deletions (and for carriers of a haplotype underlying a segregating founder deletion) was assessed separately for; attention-deficit/hyperactivity disorder (ADHD), autism spectrum disorder (ASD), major depressive disorder (MDD), and schizophrenia spectrum disorder (SSD), as well as combined (i.e., being affected with any of those disorders; Any). In the main analysis (top) we also assessed the risk associated with schizophrenia, narrowly defined (ICD10:F20), and in the quaternary analysis (bottom) we assessed the risk associated with SSD for the founder deletion and the underlying haplotype in a subset of unrelated European-ancestry samples only.
  2. bFor each test we provide the number of affected carriers (Naff); for the alpha and beta subclasses of exonic deletions, the exact number of carriers with SSD cannot be disclosed due to legislation regarding the protection of personal-level data in the research of nationwide registers and biobanks in Denmark.
  3. cThe odds ratios (OR) and 95% confidence intervals (CI95%) were in all instances derived from a logistic regression model including sex (as assigned at birth), age (at end of follow-up) and genotyping array (PsychArray or GSA) as covariates.
  4. dThe associated p-values (P) were subsequently corrected for multiple testing using false discovery rate adjustment (PFDR).
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