Abstract
This case-control study explores de novo candidate gene variants in 18 multiplex families with bipolar disorder.
Highlights
The detection of de novo variants (DNVs) by next-generation sequencing has facilitated the identification of candidate genes in psychiatric disorders.[1,2] Spontaneous DNV mutations are estimated to explain approximately 5% of genetic liability in autism and schizophrenia.[1,2] In bipolar disorder (BD), common genetic variants explain approximately 30% of the heritability,[3] and rare inherited variants contribute to disease risk.[4]
42 DNVs were identified in cases (Table) and 21 variants were identified in unaffected offspring
The overall DNV mutation rate was no different between cases and unaffected relatives (42 of 43 [0.98] and 21 of 18 [1.17], respectively; P = .65, 2-tailed χ2 statistic)
Summary
The detection of de novo variants (DNVs) by next-generation sequencing has facilitated the identification of candidate genes in psychiatric disorders.[1,2] Spontaneous DNV mutations are estimated to explain approximately 5% of genetic liability in autism and schizophrenia.[1,2] In bipolar disorder (BD), common genetic variants explain approximately 30% of the heritability,[3] and rare inherited variants contribute to disease risk.[4]. We present a DNV study in 18 multiplex bipolar families, combining 32 individuals previously reported[4] with 29 additional participants.
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