Gene Report

Approved Symbol	TPH2
Symbol Alias	NTPH, FLJ37295
Approved Name	tryptophan hydroxylase 2
Location	12q15
Position	chr12:71938846-72186618, 1
External Links	HGNC: 20692 Entrez Gene: 121278 Ensembl: ENSG00000139287 UCSC: uc009zrw.1
No. of Studies	13 (Positive: 10; Negative: 3; trend: 0)
Overlap with SZ?	YES
Overlap with MDD?	YES

Reference	Tested Markers	Statistical Values/Author Comments	Result Category	Comment on Study
Lin, Y. M., 2007	SNP: rs11178997, rs11178998, rs11179003, rs17110747, rs4570625 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), rs4570625 - rs11178997 - rs11178998(T-T-A), rs4570625 - rs11178997 - rs11178998(G-T-A), rs4570625 - rs11178997 - rs11178998(T-A-G), rs4570625 - rs11178997 - rs11178998(T-A-A), rs4570625 - rs11178997 - rs11178998(G-T-G), rs4570625 - rs11178997 - rs11178998(Others) Other variant: TPH2_C2755A	A significant difference in allele distribution was obtained for SNP C2755A; the effect of TPH2 on BPD etiology can be influenced by the presence of TPH1.	Positive	Comment on Study
Lopez, V. A., 2007	SNP: rs1007023, rs11178997, rs1386494, rs9325202 Haplotype: rs1386494 - rs1007023 - rs9325202(G-T-G), rs1386494 - rs1007023 - rs9325202(G-T-A), rs1386494 - rs1007023 - rs9325202(A-G-A)	The TPH2 might contribute to the risk of both BPAD and SA in families with BPAD.	Positive	Comment on Study
Yosifova, A.,2009	SNP: rs1007023, rs1386494, rs4131348, rs4290270, rs7305115, rs9325202	Significant association of SNP in this gene with BD in our population was observed.	Positive	Comment on Study
Harvey, M., 2007	SNP: rs4290270 Haplotype: rs1007023 - rs4290270(T-T), rs7305115 - rs1007023 - rs4290270(G-T-T), rs7305115 - rs1007023 - rs4290270(A-G-A), rs7305115 - rs1007023 - rs4290270(A-T-T), rs7305115 - rs1007023 - rs4290270(A-T-A), rs7305115 - rs1007023 - rs4290270(G-T-A), rs7305115 - rs1007023 - rs4290270(A-G-T)	A susceptibility locus in tryptophan hydroxylase 2 showed statistically significant associations with bipolar disorder	Positive	Comment on Study
Choi, K. Y., 2010	Other variant: TPH2_promoter_703G/T	There was no association of variant in this gene with bipolar disorder.	Negative	Comment on Study
Roche, S.,2009	SNP: rs1007023, rs10506645, rs1352250, rs1386482, rs1386486, rs1386491, rs1386493, rs1487275, rs1843809, rs2129575, rs2171363, rs6582078, rs9325202 Haplotype: rs1352250 - rs9325202(A-A), rs1352250 - rs9325202(A-G), rs1352250 - rs9325202(G-G), rs1487275 - rs1386486 - rs1386482(G-T-A), rs1487275 - rs1386486 - rs1386482(T-C-C), rs1487275 - rs1386486 - rs1386482(T-T-A), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(G-T-T-C-G-C-G), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-C-C-C-T-C-T), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-C-T-G-G-T-T), rs1843809 - rs1386493 - rs2171363 - rs1386491 - rs6582078 - rs10506645 - rs1007023(T-T-T-C-G-C-T)	These results strongly support a role for TPH2 in the aetiology of BPAD.	Positive	Comment on Study
Campos, S. B., 2010	SNP: rs10506645, rs10879357, rs11179000, rs1487275, rs4448731, rs4565946, rs4760820, rs7955501 Haplotype: rs4448731 - rs4565946 - rs11179000(CCT), rs4565946 - rs11179000 - rs7955501 - rs10506645(CATT), rs7955501 - rs10506645 - rs4760820(ATC)	Our findings do not support the association between diagnosis of BD or suicidal behavior and TPH2 polymorphisms.	Negative	Comment on Study
Xiang, B., 2013	SNP: rs17110566	Our results indicate that the TPH2 gene in the serotonin pathway play important roles in susceptibility to BP-I.	Positive	Comment on Study
Grigoroiu-Serbanescu, M.,2008	SNP: rs10748185, rs11178997, rs11178998, rs11178999, rs11615016, rs11834097, rs1386486, rs1386497, rs1487275, rs17110477, rs17110563, rs17722134, rs1843809, rs4760820, rs7954758 Haplotype: rs1386497 - rs11834097 - rs4760820 - rs17722134(), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACCA), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACCG), rs1386497 - rs11834097 - rs4760820 - rs17722134(ATCA), rs1386497 - rs11834097 - rs4760820 - rs17722134(ACGA), rs1386497 - rs11834097 - rs4760820 - rs17722134(CCCA)	These data provide further support for the involvement of genetic variation in TPH2 in the etiology of BPI.	Positive	Comment on Study
Mann, J. J., 2008	SNP: rs4131347	No association was detected between the rs4131347 (?C8347G) SNP in the promoter region of the TPH2 gene and mood disorders	Negative	Comment on Study
Van Den Bogaert, A., 2006 (a)	SNP: rs10748185, rs11178997, rs1487275, rs1843809, rs2129575, rs4131348, rs4474484 Haplotype: rs11178997 - rs10748185 - rs2129575 - rs1843809(T-A-G-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-T-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-G-T), rs11178997 - rs10748185 - rs2129575 - rs1843809(T-G-G-G), rs11178997 - rs10748185 - rs2129575 - rs1843809(A-G-T-T), rs1487275 - rs4474484(A-G, C-A, A-A), rs4131348 - rs4131348(C-T)	Haplotype-based analysis of TPH2 in patients with UP and BP disorder and controls from northern Swedish descent provides preliminary evidence for protective association in both disorders and thus supports a central role for TPH2 in the pathogenesis of affective disorders.	Positive	Comment on Study
Cichon, S., 2008	SNP: rs10748185, rs11178997, rs11178998, rs11178999, rs11615016, rs11834097, rs1386486, rs1386497, rs1487275, rs17110477, rs17110563, rs17722134, rs1843809, rs4760820, rs7954758	Examination of the functional effects of TPH2 Pro206Ser provided evidence for a reduced thermal stability and solubility of the mutated enzyme, suggesting reduced 5-HT production in the brain as a pathophysiological mechanism in BPAD.	Positive	Comment on Study
Chen, S., 2014	SNP: rs1386494, rs2171363, rs4760816, rs1386486, rs1872824 Haplotype: rs1386494 - rs2171363 - rs4760816(C-A-C), rs1386494 - rs2171363 - rs4760816(C-G-T), rs1386494 - rs2171363 - rs4760816(T-A-C)	SNPs (rs1386486 and rs1872824) in this gene showed significant differences in genotype frequencies (rs1386486: P-value=0.043351; rs1872824: P-value=0.016563). Our results support TPH2 as a candidate gene causing BPD in the Chinese Han population.	Positive	Comment on Study

Region: chr12:71938846..72186618 View in gBrowse