Analysis of ANK3 and CACNA1C variants identified in bipolar disorder whole genome sequence data.

ABSTRACT:

Objectives

Genetic markers in the genes encoding ankyrin 3 (ANK3) and the α-calcium channel subunit (CACNA1C) are associated with bipolar disorder (BP). The associated variants in the CACNA1C gene are mainly within intron 3 of the gene. ANK3 BP-associated variants are in two distinct clusters at the ends of the gene, indicating disease allele heterogeneity.

Methods

In order to screen both coding and non-coding regions to identify potential aetiological variants, we used whole-genome sequencing in 99 BP cases. Variants with markedly different allele frequencies in the BP samples and the 1,000 genomes project European data were genotyped in 1,510 BP cases and 1,095 controls.

Results

We found that the CACNA1C intron 3 variant, rs79398153, potentially affecting an ENCyclo

SUBMITTER: Fiorentino A 

PROVIDER: S-EPMC4227602 | biostudies-literature | 2014 Sep

REPOSITORIES: biostudies-literature