BDgene

Gene Report

Basic Info
Approved Symbol TH
Symbol Alias DYT5b
Approved Name tyrosine hydroxylase
Name Alias tyrosine 3-monooxygenase
Location 11p15.5
Position chr11:2163929-2171877, -1
External Links HGNC: 11782
Entrez Gene: 7054
Ensembl: ENSG00000180176
UCSC: uc001lvr.3
No. of Studies 16 (Positive: 4; Negative: 12; trend: 0)
Overlap with SZ? YES
Overlap with MDD? YES
Gene related studies (count: 16)
Reference Tested Markers Statistical Values/Author Comments Result Category Comment on Study
Nothen, M. M., 1992 No significant association between bipolar affective disorder and TH was found. Thus the hypothesis that TH is involved in the pathogenesis of bipolar affective disorder was not supported. Negative Comment on Study
De bruyn, A.,1994 Other variant: TH_PstI Polymorphism, TH_TaqI Polymorphism Two-point linkage results excluded close linkage of bipolar illness to each candidate gene, and negative linkage results were obtained with the candidate genes DRD4, TH, TYR, and DRD2 under different genetic and phenotypic conditions Negative Comment on Study
Gill, M., 1991 Other variant: TH_TaqI Polymorphism, TH_BglII Polymorphism The frequencies of the alleles in TH are not significantly different between patients and controls Negative Comment on Study
Leboyer, M.,1990 Other variant: TH_TaqI Polymorphism, TH_BglII Polymorphism TaqI OR = 2.99, BglII OR = 2.4;. Our results demonstrated an association between RFLP and bipolar illness. Positive Comment on Study
Muglia, P.,2002 Other variant: TH_VNTR The analysis of TH did not reveal biased transmission of intron I VNTR alleles. Negative Comment on Study
Serretti, A.,2000(b) Other variant: TH_intron 1_tetranucleotide polymorphism No significant linkage was found in this study. Negative Comment on Study
Korner, J.,1994 Haplotype: TH - PJ4.7 - TY7(TH4 - PJ4.7 - TY7)
Other variant: TH_intron 1_tetranucleotide repeat
Association analysis: no significant differences between the groups were observed in allele frequencies in either the London (X<sup>2</sup> = 1.80, df = 4, P-value = 0.77), the Cardiff (X<sup>2</sup> = 2.04, df = 4, P-value = 0.73), or the Bonn study (X<sup>2</sup> = 7.34, df = 4, P-value = 0.12).. No significant association between bipolar affective disorder and THwas found. Negative Comment on Study
Perez de Castro, I.,1995 Other variant: TH_(CATT)n X<sup>2</sup> = 9.55, df = 4, P-value<0.05. Specially for the th10 allele, the th10 allele of the TH gene was significantly more frequent in patients (0.358) than in controls (0.208) (X<sup>2</sup> = 5.81, df = 1, P-value = 0.015). After multiple correction, the th10 allele p-value = 0.15). A weak association between TH gene and bipolar affective disorder is suggested Positive Comment on Study
Souery, D.,1999 Other variant: TH_intron 1_tetranucleotide repeat The results of this association study do not confirm the possible implication of TH polymorphism in the susceptibility to BPAD. Negative Comment on Study
Furlong, R. A.,1999(c) Other variant: TH_intron 1_tetranucleotide repeat, TH_PstI Polymorphism These results do not support the tyrosine hydroxylase gene having a major role in the etiology of bipolar affective disorder. Negative Comment on Study
Souery, D.,1996(b) Other variant: TH_intron 1_tetranucleotide repeat Association and linkage disequilibrium were excluded between bipolar affective disorder and these four candidate genes in our sample. Negative Comment on Study
Souery, D.,1996(a) Other variant: TH_intron 1_tetranucleotide repeat, TH_TaqI Polymorphism The observed excess of homozygosity may indicate that a recessive variant of TH gene is involved in the susceptibility to the disease. Positive Comment on Study
Turecki, G., 1997 Other variant: TH_TaqI_RFLP, TH_tetranucleotide repeat The overall odds ratio (and confidence interval) based on combining the results of the studies was 1.02 (0.68-1.54). Test of the null hypothesis that the mean log odds ratio equals zero (chi2 = 0.11; 5 df; P > 0.05) indicated that there was no overall association between bipolar disorder and tyrosine hydroxylase. Negative Comment on Study
Burgert, E., 1998 Other variant: TH_(TCAT)n No association was apparent between HUMTH01 and BPD. Negative Comment on Study
Malafosse, A., 1997 Other variant: TH_TaqI_RFLP, TH_BglII Taken together these results converge to suggest that the risk factors for MDI lie in the 11p15 region with TH being the most likely candidate gene. Positive Comment on Study
Oruc, L., 1997 (a) Other variant: TH_1-5 allele Therefore, the hypothesis that the tyrosine hydroxylase and the dopamine D4 receptor genes may be involved in the etiology of bipolar disorder and unipolar recurrent major depression is not supported in our study. Negative Comment on Study
Gene functional annotation
Gene related GO terms (count: 83)

GO terms by PBA (count: 2)

GO terms by database search (count: 81)


Gene related KEGG pathways (count: 2)

KEGG pathways by PBA (count: 0)

KEGG pathways by database search (count: 2)


Gene related BioCarta pathways (count: 0)

Gene related interactors from protein-protein interactions data in HPRD (count: 10)

Related other genetic factors
Gene related SNPs (count: 5)

Literature-origin SNPs (count: 1)

LD-proxies (count: 4)


Gene related CNVs (count: 0)

Gene related other variants (count: 12)

Gene related regions (count: 3)

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: 15)


Gene relationship with MDD

Overlap with MDD from cross-disorder studies (count: 3)

Overlap with MDD from candidate gene intersection analysis (count: 0)


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Region: chr11:2163929..2171877 View in gBrowse
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