Abstract

Single nucleotide polymorphisms (SNPs) in diacylglycerol kinase eta (DGKH) have recently been shown to be associated with bipolar disorder (BD). To replicate this finding, we carried out a gene-wide genotyping of 36 tagSNPs in DGKH and performed a population-based association study on two Scandinavian samples, with successful genotyping of 594 BD cases and 1421 healthy controls. We found no significant association after multiple-testing correction between any of these SNPs and BD in our sample. Thus, it is unlikely that these genetic variations confer susceptibility to BD in this large Scandinavian sample.

Highlights

  • Study I No association between DGKH and bipolar disorder in a Scandinavian case-control sample 37 DGKH single nucleotide polymorphisms (SNPs) were genotyped in 594 BD cases and 1421 healthy controls of Danish and Norwegian origin

  • We found no significant association between these SNPs and BD after multiple-testing correction

  • Study II Association analysis of PALB2 and BRCA2 in bipolar disorder and schizophrenia in a Scandinavian case-control sample The PALB2 SNP rs420259 was genotyped in a sample of 686 BD cases, 781 SZ cases and 2839 healthy controls

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Summary

Introduction

4.1.1 History of bipolar disorder states of depression and exaltation were described already in the pre-Hippocratic era, Hippocrates (460–337 BC) was probably the first to give a systematic description of mania and melancholia. The hypothesis that these two conditions were manifestations of the same disease was first proposed by Aretaeus of Cappadocia, a Greek physician of the 1st century AD (Angst and Marneros, 2001). Subsequent studies reported association between CACNA1C and schizophrenia (SZ) (4,5) and major depressive disorder (MDD) (4,6), thereby supporting the hypothesis of genetic overlap between these severe psychiatric disorders

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