rs1386493
This is a intron variant variant in the TPH2 gene.
▶Research that mentions this SNP (2)
▶Candidate gene studies of ADHD: a meta-analytic reviewMeta-analysisIan R. Gizer et al.(2009)· Human Genetics
Meta-analytic review of candidate gene studies for childhood ADHD examining 19 genes. Significant associations identified for DAT1 (3' UTR VNTR: OR=1.12, p=0.028; rs27072: OR=1.20, p=0.006), DRD4 (exon 3 VNTR: OR=1.33, p=0.00007; rs1800955: OR=1.21, p=0.007), DRD5, 5HTT, HTR1B (rs6296: OR=1.11, p=0.010), and SNAP25 (rs3746544: OR=1.15, p=0.030).
▶Conduct disorder and ADHD: Evaluation of conduct problems as a categorical and quantitative trait in the international multicentre ADHD genetics studyAssociationN=590Richard J.L. Anney et al.(2008)· American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
Analysis of 554 SNPs across 47 candidate genes in 590 families from the IMAGE ADHD genetics study found no overall parent-of-origin effect (χ² = 1.82, P = 0.117) for ADHD transmission. Five SNP markers in DDC, TPH2, and SLC6A2 showed nominal associations (P < 0.01) with ADHD combined subtype when restricted to maternal or paternal transmission only, but these findings likely represent false positives given multiple comparisons.
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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