Whole-exome sequencing of 81 individuals from 27 multiply affected bipolar disorder families.

ABSTRACT: Bipolar disorder (BD) is a highly heritable neuropsychiatric disease characterized by recurrent episodes of depression and mania. Research suggests that the cumulative impact of common alleles explains 25-38% of phenotypic variance, and that rare variants may contribute to BD susceptibility. To identify rare, high-penetrance susceptibility variants for BD, whole-exome sequencing (WES) was performed in three affected individuals from each of 27 multiply affected families from Spain and Germany. WES identified 378 rare, non-synonymous, and potentially functional variants. These spanned 368 genes, and were carried by all three affected members in at least one family. Eight of the 368 genes harbored rare variants that were implicated in at least two independent families. In an extended segrega

SUBMITTER: Forstner AJ 

PROVIDER: S-EPMC7026119 | biostudies-literature | 2020 Feb

REPOSITORIES: biostudies-literature