Table 2 Comparison of effect sizes for exon-disrupting NRXN1 deletions between iPSYCH2015 and published case-control studies

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

Psychiatric outcome

iPSYCH2015

Comparison studya

Welch’s testb

OR (CI95%)

P

Nc

OR (CI95%)

P

Nc

d (se)

Pd

ADHD

2.01 (1.22–3.32)

0.0057

26,186 (0.15%)

40,626 (0.066%)

4.68 (1.82–10.6)

0.00093

8883 (0.1%)

180,809 (0.021%)

0.84 (0.52)

0.10

ASD

3.06 (1.88–4.95)

7.4 × 10−6

22,167 (0.23%)

40,626 (0.066%)

7.24 (0.93–326)

0.036

2558 (0.27%)

2670 (0.037%)

0.81 (1.52)

0.57

MDD

1.46 (0.83–2.56)

0.19

31,622 (0.10%)

40,626 (0.066%)

2.01 (1.18–3.19)

0.0057

23,979 (0.079%)

383,095 (0.039%)

0.32 (0.38)

0.41

SSD

1.41 (0.69–2.90)

0.35

13,126 (0.091%)

40,626 (0.066%)

4.50 (2.03–10.9)

2.8 × 10−5

20,403 (0.15%)

26,628 (0.034%)

1.16 (0.56)

0.040

ID

2.68 (1.65–4.34)

6.7 × 10−5

5975 (0.38%)

40,626 (0.066%)

8.14 (2.91–22.7)

<0.0001

19,263 (0.21%)

15,264 (0.026%)

1.11 (0.58)

0.055

Epilepsy

1.94 (1.01–3.73)

0.046

3957 (0.25%)

40,626 (0.066%)

9.91 (1.92–51.1)

0.0049

1569 (0.32%)

6201 (0.032%)

1.63 (0.90)

0.070

TS

1.53 (0.65–3.56)

0.33

2222 (0.27%)

40,626 (0.066%)

20.3 (2.6–156)

5.9 × 10−5

2434 (0.49%)

4093 (0.033%)

2.59 (1.13)

0.022

  1. Comparison of effect sizes between iPSYCH2015 and published case-control studies
  2. aRisk estimates for exonic deletions in iPSYCH2015 were compared with estimates from the largest available published case-control studies for attention-deficit/hyperactivity disorder (ADHD)14, autism spectrum disorder (ASD)13, major depressive disorder (MDD)15, schizophrenia spectrum disorder (SSD)12, intellectual disability (ID)16, epilepsy17, and Tourette syndrome (TS)18.
  3. bThe comparison was done through a Welch’s test, with d (se) denoting the absolute difference in estimates (|log(OR1/OR2)|) and standard error thereof (√(SE12 + SE22)), and Pd indicating the significance of the difference (2*(1-pnorm(d/(se)))). The difference in risk estimates between iPSYCH2015 and Rees et al. (fourth row from top) was not significant when using iPSYCH2015 estimates for narrowly defined (ICD10;F20) schizophrenia (OR (CI95%) = 1.87 (0.81–4.33), d (se) = 0.88 (0.61), Pd = 0.15).
  4. cAbove; number of affected (% of affected with an exonic deletion in NRXN1 gene) – Below; number of unaffected (% of unaffected with an exonic deletion in NRXN1 gene).
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