Gene Report

Basic Info
Approved Symbol TPH1
Previous Symbol TPRH, TPH
Approved Name tryptophan hydroxylase 1
Previous Name tryptophan hydroxylase (tryptophan 5-monooxygenase)
Name Alias tryptophan 5-monooxygenase
Location 11p15.3-p14
Position chr11:18017564-18042426, -1
External Links HGNC: 12008
Entrez Gene: 7166
Ensembl: ENSG00000129167
UCSC: uc001mnp.2
No. of Studies 14 (Positive: 5; Negative: 9; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 14)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Chen, C., 2008 The pooled OR for the AA genotype relative to the CC genotype was significant (z = 2.18, p = 0.029), with a value of 1.41 and a 95% CI of 1.04-1.93. The AA genotype was also a significant risk factor (z = 2.72, p = 0.006) in relation to the AC genotype, with a pooled OR of 1.37 and a 95% CI of 1.09-1.72. The AC and CC genotypes had approximately equal nonsignificant effects (z = 0.16, p = 0.870) on risk for BPD (OR = 1.02, 95% CI: 0.83-1.25).. This pattern of results suggested that the A allele may increase risk for BPD in a recessive manner. Positive Comment on Study
Rietschel, M.,2000 Other variant: TPH1_A218C Our results, therefore, do not support the hypothesis that the TPH gene is involved in the etiology of bipolar disorder. Negative Comment on Study
Serretti, A.,2002 Other variant: TPH1_A218C Our study did not support the involvement of 5-HTTLPR, TPH, MAO-A, or DRD4 polymorphisms in bipolar disorder. Negative Comment on Study
Chen, D.,2011 SNP: rs1800532 The TPH1 A218C polymorphism is a potential biomarker for bipolar disorder and alcohol dependence risk in Caucasian population. Positive Comment on Study
Lai, T. J.,2005 SNP: rs1800532, rs2108977, rs211105, rs2237907, rs623580, rs684302
Haplotype: (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(G-G-G-A-G-A-C-C-C-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(G-G-T-A-G-A-C-C-C-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(G-G-T-T-G-C-C-C-T-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(G-G-T-T-G-C-C-C-T-G), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-A-G-A-C-A-T-G), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-A-G-A-C-C-T-G), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-A-A-C-A-C-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-A-A-C-C-T-G), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-A-A-G-A-C-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-A-A-G-A-T-A), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-G-A-C-C-T-G), (TPH1_5'flanking_T-1721G) - (TPH1_5'flanking_A-1067G) - (TPH1_5'flanking_G-347T) - (TPH1_Intron1_T3804A) - (TPH1_Intron2_G7465A) - (TPH1_Intron3_A12517C) - (TPH1_Intron6_C18626G) - (TPH1_Intron7_A20004C) - (TPH1_3'UTR_C27224T) - (TPH1_3'UTR_A27237G)(T-A-G-T-G-C-G-A-C-A)
Other variant: TPH1_3'UTR_A27237G, TPH1_5'flanking_A-1067G, TPH1_5'flanking_G-347T, TPH1_5'flanking_T-1721G
Results of this study did not support the role of TPH1 gene in BPD etiology. Negative Comment on Study
Choi, K. Y., 2010 Other variant: TPH1_promoter_218A/C There was no association of variant in this gene with bipolar disorder. Negative Comment on Study
Bellivier, F., 1998 (a) Other variant: TPH1_A218C This result suggests the involvement of the TPH gene in susceptibility to manic-depressive illness. This preliminary result requires confirmation in further groups of patients and controls. Positive Comment on Study
Lin, Y. M., 2007 Haplotype: TPH1_-346G - rs4570625 - rs11178997 - rs11178998(G, T-A-G), TPH1_-346T - rs4570625 - rs11178997 - rs11178998(T, T-A-G), TPH1_G-346T - rs4570625 - rs11178997 - rs11178998(G/T, T-A-G), TPH1_G-346T - rs4570625 - rs11178997 - rs11178998(G/T, non T-A-G) The effect of TPH2 on BPD etiology can be influenced by the presence of TPH1. Positive Comment on Study
Vincent, J. B.,1999(a) Other variant: TPH1_BfaI Polymorphism No significant differences were found in bipolar groups. Negative Comment on Study
McQuillin, A.,1999 Other variant: TPH1_intron 7_218A/C We found no association between TPH variant and bipolar disorder in our caucasian populations. Negative Comment on Study
Kunugi, H.,1999(a) Other variant: TPH1_intron 7_218A/C The authors conclude that the examined polymorphisms are unlikely to have major relevance to the pathogenesis of affective disorders or suicidal behavior. Negative Comment on Study
Serretti, A.,2001(a) Other variant: TPH1_A218C TPH variants were not associated with major psychoses, but a trend was observed toward an excess of TPH*A/A in bipolar disorder. Positive Comment on Study
Souery, D.,2001 Other variant: TPH1_A218C We failed to detect an association between the A218C polymorphism of the TPH gene and BPAD and UPAD in a large European sample. Negative Comment on Study
Rotondo, A.,2002 Other variant: TPH1_A218C TPH A218C variants are not, therefore, a major liability factor for the symptoms of major psychoses to have in the present sample. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 17)

GO terms by PBA (count: 0)

GO terms by database search (count: 17)

Gene related KEGG pathways (count: 1)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 1)

Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 2)

Related other genetic factors
Gene related SNPs (count: 16)

Literature-origin SNPs (count: 6)

LD-proxies (count: 10)

Gene related CNVs (count: 0)

Gene related other variants (count: 8)

Gene related regions (count: 2)

Overlap with schizophrenia (SZ) and major depressive disorder (MDD)
Gene relationship with SZ

Overlap with SZ from cross-disorder studies (count: 1)

Overlap with SZ from candidate gene intersection analysis (count: 16)

Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 5)

Overlap with MDD from candidate gene intersection analysis (count: 8)

View in gBrowse

Region: chr11:18017564..18042426 View in gBrowse
View in gBrowse