Browse
Submit Data
Databases
API
Help

Dataset Information

0 Views

0 Connections

0 Citations

0 Reanalyses

0 Downloads

Omics score: 0

Evaluation of VNTR polymorphisms of dopamine transporter gene and the risk of bipolar disorder in Zahedan, southeast Iran.

ABSTRACT: The exact role of dopamine transporter gene (DAT1) in the pathogenesis of bipolar disorder type 1 (BD) is not understood. In the present study, we aimed to evaluate the possible association between 30, 40 and 63 bp variable number tandem repeat (VNTR) polymorphisms of DAT1 gene and the risk of type 1 (BD) in a sample of Iranian population. This case-control study was performed on 152 BD patients and 153 psychiatrically healthy subjects. Genotyping of the variant was done by polymerase chain reaction method. Totally, the findings did not support an association between DAT1 VNTR polymorphisms and the risk of BD in a sample of southeast Iranian population.

SUBMITTER: Shakiba M

PROVIDER: S-EPMC5640894 | biostudies-literature | 2017 Sep

REPOSITORIES: biostudies-literature

ACCESS DATA

Json Xml

Publications

Evaluation of VNTR polymorphisms of dopamine transporter gene and the risk of bipolar disorder in Zahedan, southeast Iran.

Shakiba Mansour M Hashemi Mohammad M Mahdar Salah S Rahbari Zahra Z Bahari Gholamreza G

Molecular biology research communications 20170901 3

The exact role of dopamine transporter gene (DAT1) in the pathogenesis of bipolar disorder type 1 (BD) is not understood. In the present study, we aimed to evaluate the possible association between 30, 40 and 63 bp variable number tandem repeat (VNTR) polymorphisms of <i>DAT1</i> gene and the risk of type 1 (BD) in a sample of Iranian population. This case-control study was performed on 152 BD patients and 153 psychiatrically healthy subjects. Genotyping of the variant was done by polymerase cha ...[more]

PMID: 29071281

Similar Datasets

Association of IRGM polymorphisms and susceptibility to pulmonary tuberculosis in Zahedan, Southeast Iran.

Project description:Tuberculosis (TB) is a major cause of morbidity and mortality worldwide. IRGM1 is an important protein in the innate immune response against intracellular pathogens by regulating autophagy. Polymorphisms in the IRGM genes are known to influence expression levels and may be associated with outcome of infections. This case-control study was done on 150 patients with PTB and 150 healthy subjects to determine whether the IRGM polymorphisms at positions -1208?A/G (rs4958842), -1161?C/T (rs4958843), and -947?C/T (rs4958846) were associated with PTB. The polymorphisms were determined using tetra-amplification refractory mutation system-PCR (T-ARMS-PCR). The results showed that the IRGM -1161?C/T and -947?C/T polymorphisms were associated with decreased susceptibility to PTB (OR?=?0.06, 95% CI = 0.03-0.13, P?<?0.001 and OR?=?0.27; 95% CI = 0.013-0.55, P?<?0.001, resp.). No significant difference was found among the groups regarding -1208?A/G polymorphism. In conclusion we found that the IRGM -1161?C/T and -947?C/T polymorphisms but not -1208?A/G polymorphism provide relative protection against PTB in a sample of Iranian population.

| S-EPMC3461614 | biostudies-literature

Evaluation of rs3102735 and rs2073617 Osteoprotegerin Gene Polymorphisms and the Risk of Childhood Acute lymphoblastic Leukemia in Zahedan Southeast Iran.

Project description:IntroductionOsteoprotegerin (OPG), a soluble decoy receptor secreted by osteoblasts, binds RANK-L, preventing stimulation of osteoclastogenesis. In the present study we aimed to investigate the impact of OPG variants and susceptibility to childhood acute lymphocytic leukemia (ALL) in a sample of Iranian population.MethodsThis case-control study was done on 98 ALL and 124 healthy children. We genotyped the polymorphisms using tetra-primer ARMS-PCR (T-ARMS-PCR).ResultsOur findings showed that neither rs3102735 nor rs2073617 variants were associated with ALL in a sample of Iranian population. Concerning rs3102735 polymorphism, the age of ALL predispositions was significantly higher in TC+CC genotype than TT genotype (P=0.032). Furthermore, the CSF involvement was significantly higher in ALL subjects carrying TC+CC genotype (p=0.044).ConclusionWe found no association between OPG (rs3102735, rs2073617) gene polymorphisms and risk of childhood ALL. Further studies with larger sample sizes and various ethnicities are necessary to verify our findings.

| S-EPMC4345296 | biostudies-literature

Association of Genetic Polymorphisms of IFNGR1 with the Risk of Pulmonary Tuberculosis in Zahedan, Southeast Iran.

Project description:Aim. The present study was undertaken to find out the possible association between interferon-gamma (IFN-γ) receptor 1 (IFNGR1) gene polymorphisms and risk of pulmonary tuberculosis (PTB) in a sample of Iranian population. Methods. Polymorphisms of IFNGR1 rs1327474 (-611 A/G), rs11914 (+189 T/G), rs7749390 (+95 C/T), and rs137854905 (27-bp ins/del) were determined in 173 PTB patients and 164 healthy subjects. Results. Our findings showed that rs11914 TG genotypes decreased the risk of PTB in comparison with TT (OR = 0.36, 95% CI = 0.21-0.62, and p = 0.0002). The rs11914 G allele decreased the risk of PTB compared with T allele (OR = 0.41, 95% CI = 0.25-0.68, and p = 0.0006). IFNGR1 rs7749390 CT genotype decreased the risk of PTB in comparison with CC genotype (OR = 0.55, 95% CI = 0.32-0.95, and p = 0.038). No significant association was found between IFNGR1 rs1327474 A/G polymorphism and risk/protective of PTB. The rs137854905 (27-bp I/D) variant was not polymorphic in our population. Conclusion. Our findings showed that IFNGR1 rs11914 and rs7749390 variants decreased the risk of PTB susceptibility in our population.

| S-EPMC4663002 | biostudies-literature

Association of genetic polymorphisms of CISH with the risk of pulmonary tuberculosis in Zahedan, Southeast Iran.

Project description:BackgroundIn the current study we aimed to find out the impact of cytokine-inducible Src homology 2 domain protein (CISH) gene polymorphisms on the risk of pulmonary tuberculosis (PTB) in a sample of Iranian population.Materials and methodsPolymorphisms of CISH rs2239751, rs414171, and rs6768300 were determined in 200 PTB patients and 200 healthy subjects using T-ARMS-PCR or PCR-RFLP method.ResultsThe results showed that rs414171 A>T genotypes significantly decreased the risk of PTB (OR=0.16, 95% CI=0.10-0.27, p<0.0001, AT vs AA; OR=0.31, 95% CI=0.14-0.68, p<0.0001, TT vs AA; OR=0.19, 95% CI=0.12-0.29, p<0.0001, AT+TT vs AA; OR=0.29, 95%CI=0.20-0.42, p<0.0001, T vs A). For rs6768300, the findings indicated that this variant decreased the risk of PTB (OR=0.52, 95% CI=0.33-0.82, p=0.005, CG vs GG; OR=0.57, 95% CI=0.38-0.87, p=0.012, C vs G). No significant association was observed between CISH rs2239751 polymorphism and risk/protection of PTB.ConclusionOur findings indicated that CISH rs414171 and rs6768300 variants might be associated with protection from PTB.

| S-EPMC9427600 | biostudies-literature

CD226 rs763361 (Gly307Ser) polymorphism is associated with susceptibility to rheumatoid arthritis in Zahedan, southeast Iran.

Project description:BACKGROUND:Rheumatoid arthritis (RA) is a chronic inflammatory disease with many genetic factors predisposing to disease susceptibility. The aim of the present study was to investigate the impact of CD226 rs727088 and rs763361 polymorphisms and susceptibility to RA in a sample of the Iranian population. METHODS:This case-control study was carried out on 100 patients with RA and 104 healthy subjects. The polymorphisms were determined using tetra amplification refractory mutation system-polymerase chain reaction assay. RESULTS:The rs763361 (Gly307Ser) polymorphism increased the risk of RA in codominant, dominant and recessive-tested inheritance models (odds ratio [OR] = 3.18, 95% confidence intervals [95% CI] = 1.44-7.02, P = 0.004, CC vs. TT, and OR = 1.98, 95% CI = 1.10-3.57, P = 0.023, CC vs. CT-TT, and OR = 2.61, 95% CI = 1.26-5.37, P = 0.010, CC + CT vs. TT, respectively). In addition, the rs763361 T allele increased the risk of RA (OR = 2.06, 95% CI = 1.38-3.08, P<0.001). However, no significant difference was observed among the groups regarding CD226 rs727088 polymorphism (?2 = 3.20, P = 0.202). CONCLUSIONS:Our finding showed that CD226 rs763361, but not rs727088, gene polymorphism increased the risk of RA in a sample of the Iranian population.

| S-EPMC3882922 | biostudies-literature

Association of Dopamine Transporter Gene (DAT1) 40 bp 3' UTR VNTR Polymorphism (rs28363170) and Cannabis Use Disorder.

Project description:IntroductionCannabis remains the most widely used illicit drug among Nigerians, often associated with psychiatric disorders. Since genetic predisposition has been implicated in substance use disorders, we, therefore, aimed at finding out the relationship between dopamine transporter gene (DAT1) polymorphism and cannabis use disorder.MethodsWe recruited 104 patients from a tertiary psychiatric facility in Lagos, Nigeria, who were diagnosed with cannabis use disorder according to ICD-10 and 96 non-smokers as a comparative group. The smokers were screened with Cannabis Use Disorder Identification Test (CUDIT), and cannabis dependence was assessed with the Severity of Dependence Scale (SDS). Genotyping was carried out for the 40 bp 3' UTR VNTR of the DAT1 (rs28363170).ResultsThe frequencies of 9R/9R, 9R/10R, 10R/10R among non-smokers and smokers were 14 (14.3%), 25 (26.2%), 57 (59.5%) and 17 (16.3%), 54 (51.9%), 33 (31.7%) respectively. The genotype distribution was in Hardy Weinberg equilibrium (HWE) only in the smokers' population (χ² = 1.896, P = .166). Individuals with the 10R allele were almost twice as likely as the 9R carriers to smoke cannabis (OR = 1.915, 95% CI: 1.225-2.995). However, this polymorphism was not associated with the quantity of cannabis smoked, age at onset of smoking, CUDIT, and SDS scores.ConclusionThe DAT VNTR polymorphism was associated with cannabis smoking but not cannabis use disorder.

| S-EPMC10068503 | biostudies-literature

Association of dopamine transporter gene variants with childhood ADHD features in bipolar disorder.

Project description:Bipolar disorder (BD) and attention deficit hyperactivity disorder (ADHD) exhibit remarkably high rates of comorbidity, as well as patterns of familial co-segregation. Epidemiological data suggests that these disorders either share a common genetic architecture or that ADHD features in BD may represent an etiologically distinct subtype. We previously used the Wender Utah Rating Scale (WURS) to assess ADHD features in BD families and identified three heritable factors relating to impulsivity, mood instability, and inattention. Linkage analysis revealed a LOD score of 1.33 for the inattention factor on 5p15.3 near the dopamine transporter gene (DAT1), which has been associated with both BD and ADHD. Pharmacological evidence also suggests a role for DAT in both disorders. We have now evaluated the association of ten DAT1 variants for the WURS total score and factors in an overlapping sample of 87 BD families. Significant associations for three SNPs were observed across the WURS measures, notably for a SNP in intron 8 with the WURS total score (P = 0.007) and for variants in introns 9 and 13 with mood instability (P = 0.009 and 0.004, respectively). Analysis of an independent sample of 52 BD cases and 46 healthy controls further supported association of the intron 8 variant with mood instability (P = 0.005), and a combined analysis confirmed the associations of this SNP with WURS total score. Impulsivity and mood instability (P = 0.002, 0.007, and 8 × 10(-4), respectively). These data suggest that variants within DAT1 may predispose to a subtype of BD characterized by early prodromal features that include attentional deficits.

| S-EPMC3904300 | biostudies-literature

Reduced dopamine transporter functioning induces high-reward risk-preference consistent with bipolar disorder.

Project description:Individuals with bipolar disorder (BD) exhibit deleterious decision making, negatively impacting their lives. Such aberrant decision making can be quantified using the Iowa Gambling Task (IGT), which requires choosing between advantageous and disadvantageous options based on different reward/punishment schedules. The mechanisms underlying this behavioral deficit are unknown, but may include the reduced dopamine transporter (DAT) functioning reported in BD patients. Using both human and mouse IGTs, we tested whether reduced DAT functioning would recreate patterns of deficient decision making of BD patients. We assessed the IGT performance of 16 BD subjects (7 female) and 17 healthy control (HC) subjects (12 female). We recorded standard IGT performance measures and novel post-reward and post-punishment decision-making strategies. We characterized a novel single-session mouse IGT using C57BL/6J mice (n = 44). The BD and HC IGT performances were compared with the effects of chronic (genetic knockdown (KD; n = 31) and wild-type (n = 28) mice) and acute (C57BL/6J mice (n = 89) treated with the DAT inhibitor GBR12909) reductions of DAT functioning in mice performing this novel IGT. BD patients exhibited impaired decision making compared with HC subjects. Both the good-performing DAT KD and GBR12909-treated mice exhibited poor decision making in the mouse IGT. The deficit of each population was driven by high-reward sensitivity. The single-session mouse IGT measures dynamic risk-based decision making similar to humans. Chronic and acute reductions of DAT functioning in mice impaired decision-making consistent with poor IGT performance of BD patients. Hyperdopaminergia caused by reduced DAT may impact poor decision making in BD patients, which should be confirmed in future studies.

| S-EPMC4229584 | biostudies-literature

Dopamine transporter gene variant affecting expression in human brain is associated with bipolar disorder.

Project description:The gene encoding the dopamine transporter (DAT) has been implicated in CNS disorders, but the responsible polymorphisms remain uncertain. To search for regulatory polymorphisms, we measured allelic DAT mRNA expression in substantia nigra of human autopsy brain tissues, using two marker SNPs (rs6347 in exon 9 and rs27072 in the 3'-UTR). Allelic mRNA expression imbalance (AEI), an indicator of cis-acting regulatory polymorphisms, was observed in all tissues heterozygous for either of the two marker SNPs. SNP scanning of the DAT locus with AEI ratios as the phenotype, followed by in vitro molecular genetics studies, demonstrated that rs27072 C>T affects mRNA expression and translation. Expression of the minor T allele was dynamically regulated in transfected cell cultures, possibly involving microRNA interactions. Both rs6347 and rs3836790 (intron8 5/6 VNTR) also seemed to affect DAT expression, but not the commonly tested 9/10 VNTR in the 3'UTR (rs28363170). All four polymorphisms (rs6347, intron8 5/6 VNTR, rs27072 and 3'UTR 9/10 VNTR) were genotyped in clinical cohorts, representing schizophrenia, bipolar disorder, depression, and controls. Only rs27072 was significantly associated with bipolar disorder (OR = 2.1, p = 0.03). This result was replicated in a second bipolar/control population (OR = 1.65, p = 0.01), supporting a critical role for DAT regulation in bipolar disorder.

| S-EPMC3138671 | biostudies-literature

Association study of dopamine transporter gene (DAT1) variable tandem repeat sequence (VNTR) with obsessive-compulsive disorder in Chinese Han Population.

Project description:ObjectiveMultiple evidence suggests an involvement of the dopamine neurotransmitter system in Obsessive-compulsive disorder (OCD). Therefore, we explore the association of 3'UTR region of 40 bp variable tandem repeat (VNTR) polymorphism in Dopamine Transporter Gene (DAT1) in Chinese Han population.MethodsA total of 305 OCD patients and 435 healthy individuals were recruited for the study. OCD was diagnosed with the Forth Edition (DSM-IV) diagnostic criteria. After polymerase chain reaction of VNTR was used to evaluate the 40 bp VNTR polymorphism in DAT1, a case-control association analysis was performed by the χ(2) test.ResultsThe results showed that no association was found between OCD patients and controls for the genotype distribution (X(2) =0.743, P=0.690, df=2) as well as allelic (X(2)=0.172, P=0.678, OR=0.928, 95% Cl=0.885-1.224) distribution.ConclusionsOur data suggest that the 40 bp VNTR polymorphism in DAT1 may not be associated with susceptibility to OCD in the Chinese Han population studied. However, this result needed to be replicated from different populations.

| S-EPMC4443227 | biostudies-literature

OmicsDI is part of the ELIXIR infrastructure

OmicsDI is an Elixir interoperability service. Learn more ›

Tweets

OmicsDI Databases

PRIDE
PeptideAtlas
MassIVE
JPOST Repository
Physiome Model Repository

EGA
EVA
ENA
LINCS
PAXDB
Cell Collective

MetaboLights
Metabolomics Workbench
MetabolomeExpress
GNPS
BioModels
FAIRDOMHub

ArrayExpress
dbGaP
ExpressionAtlas
GEO
NODE

Information

Databases
Help
API
Contact us
Code on GitHub
Terms of use
Submit Data