Study Report

CitationHaghighi, 2008 PubMed
Full InfoHaghighi, F., Bach-Mizrachi, H., Huang, Y.Y., Arango, V., Shi, S., Dwork, A.J., Rosoklija, G., Sheng, H.T., Morozova, I., Ju, J. et al. (2008) Genetic architecture of the human tryptophan hydroxylase 2 Gene: existence of neural isoforms and relevance for major depression. Mol Psychiatry, 13, 813-820

Hypothesis or Background Impaired brain serotonin neurotransmission is a potential component of the diathesis of major depression. Tryptophan hydroxylase-2 (TPH2), is the rate limiting biosynthetic isoenzyme for serotonin that is preferentially expressed in the brain and a cause of impaired serotonin transmission.
Sample Information166 Caucasian subjects
Method Detailprotein analysis; genotyping
Method Keywordsprotein analysis; genotyping
ResultHere, we identify a novel TPH2 short isoform with truncated catalytic domain expressed in human brainstem, prefrontal cortex, hippocampus and amygdala. An exploratory study of 166 Caucasian subjects revealed association with major depression or suicide of a novel single nucleotide polymorphism (SNP) g.22879A>G located in exon 6 of this short isoform.
ConclusionsThis SNP and additional SNPs were discovered through a systematic characterization of the genetic architecture of the TPH2 gene for further genetic and functional investigations of its relationship to major depression and other psychopathology.

Relationships reported by Haghighi, 2008