OBJECTIVE: To investigate the polymorphism of the TPH gene T3792A locus in Han ethnic group of north China and its application value in forensic science. METHODS: The polymorphism of T3792A locus of the TPH gene was analyzed by the ASPCR of blood samples from 173 unrelated individuals of north Chinese Han population. RESULTS: The distribution of the T3792A locus polymorphism of the TPH gene in Han ethnic group of north China followed the Hardy-Weinberg law, with the allele A and T gene frequency of 0.486 and 0.514, respectively. CONCLUSION The TPH gene T3792A locus shows a very good genetic polymorphism, and may be applied to individual identification and paternity testing.
Asian People/genetics* ; China/ethnology* ; Forensic Genetics ; Gene Frequency ; Humans ; Paternity ; Polymorphism, Genetic ; Tryptophan Hydroxylase/genetics*

Neurochemical investigation has played a major role in the search for the cause of schizophrenia. Among many hypotheses, dopamine hypothesis of schizophrenia prevails despite much criticism and qualification. Recently, evidences showing the atypical antipsychotics act via serotonergic mechanism suggest serotonin system as an etiologic factor for schizophrenia. We examined the possibility of the association of enzymes critical for the synthesis of serotonin (tryptophan hydroxylase, TPH) and dopamine (tyrosine hydroxylase, TH) with schizophrenia. The regions of DNA that has been known to be polymorphic were amplified using polymerase chain reaction from the peripheral blood cells of 374 biologically unrelated schizophrenic patients and 393 healthy controls. RFLP (A218C) and VNTR polymorphism (intron 1) were examined for TPH and TH, respectively. The patterns of polymorphisms and the frequencies of each allele were not significantly different between the control and the patient groups, suggesting no possible associations of the genetic polymorphisms of TPH and TH genes and schizophrenia. However, in schizophrenics, the frequency of A type allele was significantly higher in positive group than negative group. Thess findings suggest the association of positive schizophrenia with A type allele of TH gene.
Alleles ; Antipsychotic Agents ; Blood Cells ; DNA ; Dopamine ; Genetics ; Humans ; Polymerase Chain Reaction ; Polymorphism, Genetic ; Polymorphism, Restriction Fragment Length ; Schizophrenia* ; Serotonin ; Tryptophan Hydroxylase* ; Tryptophan* ; Tyrosine 3-Monooxygenase* ; Tyrosine*

PURPOSE: We investigated the association between the tryptohan hydroxylase 1 (TPH1) gene and aggression in schizophrenia in a Korean population. MATERIALS AND METHODS: The sample included 61 aggressive patients as well as 104 non-aggressive patients from psychiatric hospitals and 335 healthy volunteers in Korea. Blood samples were collected from all participants for TPH1 A218C genotyping. The patients were administered standard psychiatric interviews as well as a self-report questionnaire for anger-related traits. RESULTS: In the case-control phenotypic comparisons, there was no significant association between the aggressive patients and the TPH1 A218C polymorphism. There was no significant effect of the TPH1 genotype on the anger-related traits, or no significant interaction between the genotype and group (aggressive and non-aggressive patients). CONCLUSION: These findings suggest that TPH1 does not play a major role in aggressive behavior via anger in schizophrenic patients.
Adult ; Asian Continental Ancestry Group/genetics ; Female ; Genetic Predisposition to Disease/genetics ; Genotype ; Humans ; Male ; Middle Aged ; Multivariate Analysis ; Polymorphism, Genetic/*genetics ; Schizophrenia/*genetics ; Tryptophan Hydroxylase/*genetics ; Young Adult

OBJECTIVETo investigate the relationship between tryptophan hydroxylase (TPH) gene A218C in intron 7 and 5-hydroxytryptamine transporter (5-HTT) gene variable number tandem repeat (VNTR) in intron 2 and gene-linked polymorphic region (LPR) deletion/insertion polymorphism and essential hypertension (EH) in Chinese northern Han population.

METHODSA total of 280 EH patients and 200 normotensive controls were genotyped using polymerase chain reaction-restriction fragment length polymorphism technique.

RESULTSThere were no significant differences in the frequencies of the genotypes and alleles of TPH gene A218C and 5-HTTVNTR between EH patents and controls (all P > 0.05). The genotype frequencies of SS, LS and LL in the 5-HTTLPR polymorphism was 68%, 29% and 3% in EH patients, 53%, 37% and 10% in the controls respectively (P < 0.01). The frequencies of allele S and L of the 5-HTTLPR were 82% and 18% in EH patients, 72% and 28% in the controls respectively (P < 0.01). Compared with the carriers of L allele (LS + LL), the EH risk was significantly higher in the SS homozygote (OR = 1.90, 95%CI = 1.31 - 2.77, P = 0.001). After adjustment of age, gender, body mass index, blood lipids, fasting blood glucose and blood uric acid level, the binary logistic regression analysis demonstrated that SS genotype in the 5-HTTLPR polymorphism was significantly related to occurrence of EH (OR = 1.47, 95%CI = 1.06 - 2.04, P = 0.021).

CONCLUSIONSThe SS genotype of the 5-HTTLPR might be a susceptible gene to EH, while the TPH gene A218C and 5-HTTVNTR polymorphism is not associated with EH in Chinese northern Han population.

Adult ; Alleles ; Asian Continental Ancestry Group ; Female ; Gene Frequency ; Genotype ; Humans ; Hypertension ; genetics ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Serotonin Plasma Membrane Transport Proteins ; genetics ; Tryptophan Hydroxylase ; genetics

OBJECTIVE: To study the distribution of the tryptophan hydroxylase (TPH) gene-T457C locus polymorphism in Han ethnic group in northern China and to find its applicable value in forensic science. METHODS: Genomic DNA samples, extracted from 180 unrelated individuals in northern Chinese Han population, were analyzed by PCR-RFLP. RESULTS: The discrimination power (DP) value and the power of exclusion (PE) value of the TPH gene-T457C locus were 0.624 and 0.187, respectively. The allele frequency showed significant difference from that of French people (P=0.04). CONCLUSION Polymorphism of the TPH gene-T457C locus could show ethnic and regional differences. It has a potential to be used in forensic science.
Alleles ; Asian People/genetics* ; China/ethnology* ; Electrophoresis, Polyacrylamide Gel ; Gene Frequency ; Genotype ; Humans ; Polymerase Chain Reaction/methods* ; Polymorphism, Genetic ; Sequence Analysis, DNA ; Tryptophan Hydroxylase/genetics*

OBJECTIVETo understand the environmental risk factors on attempted suicide in patients with major depression, and to study the interaction between factors as single nucleotide polymorphism(SNP) of TPH2 gene rs7305115 associated to attempted suicide in major depression.

METHODSPaired case-control study on 215 suicide attempters with major depression (92 male, 123 female) and molecular biological techniques were used to study the relation between TPH2 gene rs7305115 SNP,interrelated environmental factors and the rate of attempted suicide. Controls were paired with cases according to the same gender, similar age (no more than 3 years) and from the same district.

RESULTSThere were remarkably significant differences in gene types and gene frequency between case and control groups (P < 0.001). Data from multivariate conditional logistic regression model analysis showed that hopelessness, negative life-events and family history of suicide were relationship of attempted suicide in patients with major depression with OR values as 0.33 (95% CI: 0.22-0.99), 7.68 (95% CI: 5.79-13.74), 6.64 (95% CI: 2.48-11.04), 2.98 (95% CI: 1.17-5.04) respectively. There was no first level interaction between any of the two risk factors.

CONCLUSIONResults from the study supported the idea that hopelessness, negative life-events and family history of suicide were risk factors of attempted suicide in major deprbssion while TPH2 gene rs7305115 A/A might be the protective factor.

Case-Control Studies ; China ; epidemiology ; Depressive Disorder, Major ; genetics ; psychology ; Humans ; Odds Ratio ; Polymorphism, Single Nucleotide ; Risk Factors ; Suicide, Attempted ; psychology ; statistics & numerical data ; Tryptophan Hydroxylase ; genetics

OBJECTIVETo screen the active component of Wuzhuyutang (WZYT, Evodiae prescription) and investigate the regulatory effects of the components in WZYT on the TPH2 promoter, and to explore the possible molecular mechanism of WZYT on migraine.

METHODBy transfecting a TPH2 promoter regulating Red Fluorescent Protein expressing plasmid into PC12 cell, the global fluorescence intensities and calculations of fluorescent cells after components treatment were statistically evaluated.

RESULTDifferent regulatory effects of different components in WZYT with different concentrations on TPH2 promoter were observed.

CONCLUSIONTPH2 promoter drove Red Fluorescent Protein expressing cell line can be used as system screening components targeting TPH2 promoter activity. The possible mechanism of WZYT on migraine may due to its stimulating effects on TPH2 promoter, and promote the synthesis and release of 5-HT in cerebral.

Animals ; Drugs, Chinese Herbal ; chemistry ; pharmacology ; Evodia ; chemistry ; Humans ; Migraine Disorders ; drug therapy ; enzymology ; genetics ; PC12 Cells ; Promoter Regions, Genetic ; drug effects ; Rats ; Tryptophan Hydroxylase ; genetics ; metabolism

OBJECTIVE: To investigate the genetic polymorphism in the 5' and 3' region of TPH2 gene of Northern Chinese Han population and to explore its application value in forensic medicine. METHODS: The sequence variants and the genetic polymorphisms of 6 SNP loci (rs4570625, rs11178997, rs11178998, rs41317118, rs17110747 and rs41317114) within a 905 bp 5' flanking region and a 1,104bp 3' flanking region of TPH2 gene were analyzed by DNA sequencing in a total of 244 unrelated healthy individuals in Northern Chinese Han population. The statistical analysis was carried out by Haploview v4.2 software. RESULTS: The genotypic distributions of the 6 SNP loci in the TPH2 gene were in accordance with Hardy-Weinberg equilibrium. One C/T variant in 92922 site was found. There was a high linkage disequilibrium among the 3 SNP loci (rs4570625, rs11178997 and rs11178998) in the 5' region and the 3 SNP loci (rs41317118, rs17110747 and rs41317114) in the 3' region of TPH2 gene, respectively. The parameters of population genetics of 6 SNP loci were obtained. CONCLUSION There are great polymorphisms in the 5' and 3' region of TPH2 gene in Northern Chinese Han population, which could be used as genetic indexes for association analysis of the related diseases, as well as for forensic individual identification and paternity testing.
3' Untranslated Regions ; 5' Untranslated Regions ; Asian People/genetics* ; China/ethnology* ; Forensic Genetics ; Gene Frequency ; Genetics, Population ; Genotype ; Humans ; Linkage Disequilibrium/genetics* ; Microsatellite Repeats ; Polymerase Chain Reaction ; Polymorphism, Single Nucleotide ; Tryptophan Hydroxylase/genetics*