Association of increased genotypes risk for bipolar disorder with brain white matter integrity investigated with tract-based spatial statistics: Special Section on "Translational and Neuroscience Studies in Affective Disorders". Section Editor, Maria Nobile MD, PhD. This Section of JAD focuses on the relevance of translational and neuroscience studies in providing a better understanding of the neural basis of affective disorders. The main aim is to briefly summarise relevant research findings in clinical neuroscience with particular regards to specific innovative topics in mood and anxiety disorders

L Squarcina, J Houenou, A C Altamura, J Soares, P Brambilla

Research output: Contribution to journalReview articlepeer-review

Abstract

BACKGROUND: Diffusion tensor imaging (DTI) studies, which allow the in-vivo investigation of brain tissue integrity, have shown that bipolar disorder (BD) patients present signs of white matter dysconnectivity. In parallel, genome-wide association studies (GWAS) identified several risk genetic variants for BD.

I METHODS: In this mini-review, we summarized DTI studies coupling tract-based spatial statistics (TBSS), a reliable technique exploring white matter axon bundles, and genetics in BD. We performed a bibliographic search on PUBMED, using the search terms "TBSS", "genetics", "genome", "genes", "polymorphism", "bipolar disorder".

RESULTS: Ten studies met these inclusion criteria. ANK3 and ZNF804A polymorphisms have shown the most consistent results, with the risk alleles showing abnormal white matter integrity in patients with BD.

LIMITATIONS: Current studies are limited by the investigation of single SNPs in small and chronically treated samples.

CONCLUSIONS: Most considered TBSS-DTI studies found associations between decreased white matter integrity and genetic risk variants. These results suggest an involvement of dysmyelination in the pathogenesis of BD. The combination of TBSS with genotyping can be powerful to unveil the role of white matter in BD, in conjunction with risk genes. Future DTI studies should combine TBSS and GWAS in large populations of drug-free or minimally treated patients with BD at the onset of the disease.

Original languageEnglish
Pages (from-to)312-317
Number of pages6
JournalJournal of Affective Disorders
Volume221
DOIs
Publication statusPublished - Oct 15 2017

Keywords

  • Adult
  • Anisotropy
  • Ankyrins/genetics
  • Bipolar Disorder/diagnosis
  • Brain/pathology
  • Case-Control Studies
  • Demyelinating Diseases/diagnosis
  • Diffusion Tensor Imaging
  • Genome-Wide Association Study
  • Genotype
  • Humans
  • Kruppel-Like Transcription Factors/genetics
  • Mood Disorders/pathology
  • Polymorphism, Single Nucleotide
  • White Matter/pathology

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