ADHDgene Database
  • Published Variant
  • Published Gene: 359
  • Published Region: 128
  • Pathway by PBA: 8
  • Study: 361

Gene Report

Basic Info
Approved Symbol TPH2
Symbol Alias NTPH, FLJ37295
Approved Name tryptophan hydroxylase 2
Location 12q15
Position chr12:72332626-72426221, +
External Links HGNC: 20692
Entrez Gene: 121278
Ensembl: ENSG00000139287
UCSC: uc009zrw.1
No. of Studies 10 (significant: 7; non-significant: 3; trend: 0)
Source Literature-origin; Mapped by LD-proxy; Mapped by literature SNP

Gene related studies (count: 10)
Reference Statistical Values/Author Comments Result of Statistical Analysis
Sheehan K, 2005 haplotype (G of rs2129575/T of rs1843809) TRANSMIT P-value=0.0090, X2=6.8, df=1; global X2=14.9, df=3, P-value=0.002; haplotype (T of rs1843809/C of rs1386493) TRANSMIT P-value=0.0007, X2=11.62, df=1; global X2=19.5, df=3, P-value=0.0002 a highly significant association with ADHD was observed; a three-marker haplotype (G of rs2129575/T of rs1843809/C of rs1386493) TRANSMIT P-value=0.0027, X2=9, df=1; global X2=22.2, df=7, P-value=0.002 significantly associated with ADHD; a four-marker haplotype (G of rs2129575/T of rs1843809/C of rs1386493/T of rs1023990) TRANSMIT P-value=0.003, X2=8.9, df=1; global X2=36.2, df=14, P-value=0.001 transmitted more frequently to ADHD cases; an eight-marker (G of rs2129575/T of rs1843809/C of rs1386493/T of rs1023990/A of rs1386497/T of rs1487278/T of rs1487275/ A of rs1487279) individual X2=12.2, df=1, P-value=0.0005; global X2 not calculated showed the association with ADHD Significant
Hawi Z, 2005 one marker showed significant overtransmission of paternal alleles; paternal versus maternal transmissions, combined TDT P-value=0.0019, X2=9.6 (1df), OR=1.56; TDT P-value=0.0038, X2=8.3 when TPH2 was removed in sensitivity analysis Significant
Walitza S, 2005 significant preferential transmissions were detected for the two SNPs in TPH2's upstream regulatory region; common haplotypes of TPH2 markers FAMHAP Two-sided P-value=0.064 revealed a strong trend of association; the results link potentially functional TPH2 variations to the pathophysiology of ADHD Significant
Sheehan K, 2007 No association was found between TPH2 gene polymorphisms and ADHD in this UK sample. Non-significant
Brookes K, 2006 UNPHASED TDT P-value=0.003, global P-value=0.0512, WHAP TDT P_sum P-value=0.136; OR=1.37, one or more SNPs with nominal P-value<0.05 located in this gene Significant
Manor I, 2008 association was observed between an eight locus haplotype and ADHD DSM IV combined type III (global P-value=0.036) Significant
Oades RD, 2008 4 SNPs showed significant association Significant
Gizer IR, 2009 The present study does not support a relation between ADHD and this gene. Non-significant
Johansson S, 2010 a three-marker haplotype made up by rs7305115, rs4760818, and rs4760820, omnibus P-value=0.02 Significant
Shim SH, 2010 no differences in either genotype distribution or in allele frequencies of TPH2 -703G/T were observed between the ADHD patients and the controls Non-significant

Gene related SNPs (count: 152)

Literature-origin SNPs (count: 43)

LD-proxies (count: 109)


Gene related CNVs (count: 0)

Gene related other variant (count: 0)

Gene related regions (count: 0)

Gene related GO terms (count: 18)

GO terms by PBA (with statistical significance of FDR<0.05) (count: 0)

GO terms by database search (count: 18)


Gene related KEGG pathways (count: 2)

Genes shared at least 5 GO terms with TPH2 (count: 5)

Genes shared at least 2 KEGG pathways with TPH2 (count: 11)

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Region: chr12:72332626..72426221 View in gBrowse
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