Table 2 Rare variant burden in candidate gene sets.

From: Investigating rare pathogenic/likely pathogenic exonic variation in bipolar disorder

Gene sets examined

Meta-analysis of Firth logistic regressions

Gene set

Genes

P-LP count

OR (95% CI)

One-sided p value

Adjusted p value

All

Carrying P-LP variants

3987 cases

5322 controls

BD GWAS

165

35

78

51

1.89 (1.29–2.77)

0.0006

0.006

BD MAGMA

153

29

72

53

1.56 (1.11–2.19)

0.0052

0.042

BD MAGMA-GWAS

81

15

21

8

2.66 (1.35–5.21)

0.0023

0.021

SCZ GWAS

623

111

288

299

1.19 (1.02–1.39)

0.011

0.077

SCZ MAGMA

550

113

282

331

1.07 (0.89–1.28)

0.24

1.00

SCZ MAGMA-GWAS

342

72

198

219

1.11 (0.94–1.32)

0.12

0.72

Synaptic-RBFOX2

3,055

698

1,219

1,555

0.99 (0.98–1.01)

0.86

1.00

Synaptic-FMRP

1,233

413

756

976

0.92 (0.83–1.04)

0.91

1.00

LOF-intolerant

3,230

1,246

1628

2,059

0.93 (0.86–1.02)

0.94

1.00

All genes

25,134

2,634

7,847

9,787

1.00 (0.97–1.03)

0.39

1.00

  1. For each of 10 candidate gene sets, we performed a meta-analysis of the effect of P-LP variant burden on BD within each study (using adjusted Firth logistic regression), and calculated a one-sided p value examining enrichment of P-LP variants in BD cases. Adjusted p values represent correction for multiple comparisons using the Holm method.
  2. BD bipolar disorder, SCZ schizophrenia, GWAS genome-wide association study, LOF loss-of-function, OR odds ratio.
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