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Genetic Analysis Reveals Risk Region for Bipolar Disorder

Genetic Analysis Reveals Risk Region for Bipolar Disorder

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Bipolar disorder is known to be a highly heritable disorder with research suggesting that there may be risk variants in the expression quantitative trait loci (sections of DNA that correlate with variations in a phenotype) in the brain.

These authors assessed the impact of variants on bipolar disorder risk, combining data from both bipolar disorder genome-wide association studies (GWAS) and brain expression quantitative trait loci. To detect single nucleotide polymorphisms (SNPs) that influence expression levels of genes associated with bipolar disorder, they analyzed data from a bipolar disorder GWAS of 7481 cases and 9250 controls as well as from genome-wide brain expression quantitative trait loci from 193 healthy controls. An identified risk SNP was further tested for an association with hippocampal volume and cognitive performance among healthy individuals.

Integrative analysis revealed a significant association between bipolar disorder and a brain expression quantitative trait locus on chromosome 20q11.22. Follow-up studies confirmed the association of the risk SNP with gene expression and susceptibility to bipolar disorder and with hippocampal volume and cognitive performance in healthy individuals.

The authors conclude their findings suggest that chromosome 20q11.22 is likely a risk region for bipolar disorder. They believe that integrating functional annotation of genetic variants for gene expression can advance the understanding of the biological basis underlying bipolar disorder.

Result: Impact of a cis-associated gene expression SNP on chromosome 20q11.22 on bipolar disorder susceptibility, hippocampal structure and cognitive performance. British Journal of Psychiatry | Feb 1, 2016 (Free abstract. Full text $30) URL


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