rs1386494

This variant is located in the TPH2 gene.

Research that mentions this SNP (2)

Genetic and epigenetic analysis of SSAT gene dysregulation in suicidal behavior
ReviewMichel Guipponi et al.(2009)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

This is a comprehensive review of post-mortem brain tissue studies examining the neurobiology of suicidal behavior. The paper synthesizes findings on genetic studies, proteomics, neurotransmitter systems (serotonergic, noradrenergic, dopaminergic, glutamatergic), cell signaling, neural plasticity, and neuroendocrinology associated with suicide. Key genetic variants discussed include COMT val158met, TPH2 rs1386494, ADRA2B rs1018351, SLC6A3 rs403636, SAT1 rs6526342, HTR2C Cys23Ser, BDNF Val66Met, and 5-HTTLPR polymorphism.

Traits studied:Bipolar disorderDepressionMajor depressionPsychiatric disordersSchizophreniaSuicidal behaviorSuicide
Association of Brain-Specific Tryptophan Hydroxylase, TPH2, With Unipolar and Bipolar Disorder in a Northern Swedish, Isolated Population
AssociationN=719Ann Van Den Bogaert et al.(2006)· Archives of General Psychiatry

This case-control association study examined 719 war-trauma survivors from the Balkans to investigate the role of serotonergic gene polymorphisms in PTSD development. A nominal significant association was found between the HTR1A SNP rs6295 and Brief Symptom Inventory scores in lifetime PTSD patients (P=0.018 dominant model), with the minor C allele conveying increased risk. However, no significant associations were found for TPH2 SNPs rs11178997 and rs1386494, and the HTR1A findings did not survive Bonferroni correction.

Traits studied:Comorbid psychopathologyDepressionPTSDPost-traumatic stress disorder

About TPH2

This gene encodes a member of the pterin-dependent aromatic acid hydroxylase family. The encoded protein catalyzes the first and rate limiting step in the biosynthesis of serotonin, an important hormone and neurotransmitter. Mutations in this gene may be associated with psychiatric diseases such as bipolar affective disorder and major depression. [provided by RefSeq, Feb 2016]

View all TPH2 variants →

Gene information from NCBI Gene. Variant classifications from ClinVar.

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