Genetics Research
rs2007153
Population Frequencies12
African
T 0.46265C 0.53735TT 0.222316TC/CT 0.480679CC 0.297006pop=54,706
African American
T 0.46143C 0.53857TT 0.221342TC/CT 0.480174CC 0.298484pop=52,760
African Others
T 0.4959C 0.5041TT 0.248715TC/CT 0.494347CC 0.256937pop=1,946
Asian
T 0.32033C 0.67967TT 0.108025TC/CT 0.424603CC 0.467372pop=13,608
East Asian
T 0.31397C 0.68603TT 0.104101TC/CT 0.419744CC 0.476155pop=10,778
European
T 0.382303C 0.617697TT 0.148447TC/CT 0.467712CC 0.383841pop=548,722
Latin American 1
T 0.4128C 0.5872TT 0.169122TC/CT 0.487294CC 0.343583pop=9,366
Latin American 2
T 0.41738C 0.58262TT 0.176406TC/CT 0.48194CC 0.341655pop=18,106
Other
T 0.39107C 0.60893TT 0.155737TC/CT 0.470674CC 0.37359pop=17,902
Other Asian
T 0.3445C 0.6555TT 0.122968TC/CT 0.44311CC 0.433922pop=2,830
South Asian
T 0.3745C 0.6255TT 0.150409TC/CT 0.448187CC 0.401404pop=8,550
Studies17
Unread Studies17 ▼
1
Recent research focused on the impact of Neandertal alleles on dopamine-related brain traits. A joint measure of these alleles was reported to be associated with lower …
2
Recent research focused on the impact of Neandertal alleles on dopamine-related brain traits. A joint measure of these alleles was reported to be associated with lower dopamine synthesis, presumably leading to reduced activity of the reward system. To isolate single variants, we selected rs3025343 near the dopamine beta hydroxylase gene, which contains a likely introgressed allele. rs3025343 is an established variant for reward system-related psychiatric traits.
3
The dopaminergic theory, the oldest and most comprehensively analyzed neurotransmitter theory of schizophrenia, remains a focal point of research. Methods: This …
4
Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviors, and although strides have been made using …
5
Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviours and although strides have been made using genome-wide association studies to identify risk variants, most variants identified have been for nicotine consumption, rather than TUD. Here we leveraged four US biobanks to perform a multi-ancestral meta-analysis of TUD (derived via electronic health records) in 653,790 individuals (495,005 European, 114,420 African American and 44,365 Latin American) and data from UK Biobank (ncombined = 898,680). We identified 88 independent risk loci; integration with functional genomic tools uncovered 461 potential risk genes, primarily expressed in the brain. TUD was genetically correlated with smoking and psychiatric traits from traditionally ascertained cohorts, externalizing behaviours in children and hundreds of medical outcomes, including HIV infection, heart disease and pain. This work furthers our biological understanding of TUD and establishes electronic health records as a source of phenotypic information for studying the genetics of TUD.
6
Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviors, and although strides have been made using …
7
Tobacco use disorder (TUD) is the most prevalent substance use disorder in the world. Genetic factors influence smoking behaviors, and although strides have been made using genome-wide association studies (GWAS) to identify risk variants, the majority of variants identified have been for nicotine consumption, rather than TUD. We leveraged five biobanks to perform a multi-ancestral meta-analysis of TUD (derived via electronic health records, EHR) in 898,680 individuals (739,895 European, 114,420 African American, 44,365 Latin American). We identified 72 independent risk loci; integration with functional genomic tools uncovered 330 potential risk genes, primarily expressed in the brain. TUD was genetically correlated with smoking and psychiatric traits from traditionally ascertained cohorts, externalizing behaviors in children, and hundreds of medical outcomes, including HIV infection, heart disease, and pain. This work furthers our biological understanding of TUD and establishes EHR as a source of phenotypic information for studying the genetics of TUD.
8
Sequencing potentially causal and susceptible genes and genome-wide association studies in samples from Parkinson’s disease (PD) patients has revealed several related …
9
Alzheimer’s disease (AD) is the most prevalent neurodegenerative disorder and the most common form of dementia in the elderly. Certain genes have been identified as …
10
… (P = 0.597) model, and the DBH rs2007153 polymorphism significantly increased the risk of … In summary, the DBH rs2283123 and rs2007153 polymorphisms might influence SCZ risk, …
11
This study used two waves of data to investigate pathways through which adolescents' response inhibition related to later externalizing problems. A polygenic risk score indexed genetic …
12
… The multiple-marker analysis revealed a three-marker haplotype in DBH associated with the emergence of side effects (rs2007153–rs2797853–rs77905; global P-value=0.028; Table 3a…
13
Lung cancer is the leading cause of cancer death worldwide. Although several genetic variants associated with lung cancer have been identified in the past, stringent selection criteria …
14
Parenting influences many aspects of child development, including socio-emotional, cognitive, and behavioral outcomes. Yet most studies report only modest effect sizes. An increasingly likely explanation is that not all children are equally affected by environmental factors, including parenting. The differential susceptibility theory proposes that some children might be more susceptible to both positive and negative environmental influences, compared to other children. Such differences in susceptibility are thought to be due to genetic, temperamental, or physiological susceptibility factors. In the current thesis, we tested the theory of differential susceptibility of children to the effects of parenting in a large population-based cohort, the Generation R Study. Doing so, we went beyond common methods. First, we investigated differential susceptibility from a developmental perspective by including multiple measures over time. Second, we went beyond single-gene/polymorphisms in the investigation of gene-environment interplay by aggregating genetic variation in a set of dopamine genes. Third, we extended previous research on mild perinatal adversity as a susceptibility factor by examining its moderating role in the association between harsh parenting and hair cortisol levels, taking into account background factors that we demonstrated to be of influence on hair cortisol levels.
15
This study used an endophenotype approach to examine if delayed reward discounting (DRD; ie, a behavioral economic index of impulsivity) clarifies associations between a panel of …
16
AIM To perform a comprehensive evaluation of association of common genetic variants in candidate genes in the dopaminergic pathway with schizophrenia in a sample from Croatian population. METHODS A case-control association study was performed on 104 unrelated patients with schizophrenia recruited from a psychiatric hospital in Zagreb and 131 phenotypically normal Croatian subjects. Forty-nine tagging single nucleotide polymorphisms (tagSNPs) in 8 candidate genes in the dopaminergic pathway were identified from the HapMap database and tested for association. Genotyping was performed using the SNPlex platform. Statistical analysis was conducted to assess allelic and genotypic associations between cases and controls using a goodness of fit chi(2) test and trend test, respectively; adjustment for multiple testing was done by permutation based analysis. RESULTS Significant allele frequency differences between schizophrenia cases and controls were observed at 4 tagSNPs located in the genes DRD5, HTR1B1, DBH, and TH1 (P<0.005). A trend test also confirmed the genotypic association (P<0.001) of these 4 tagSNPs. Additionally, moderate association (P<0.05) was observed with 8 tagSNPs on SLC6A3, DBH, DRD4, SLC6A4, and COMT. CONCLUSIONS Common genetic variants in genes involved in the dopaminergic pathway are associated with schizophrenia in the populations of Caucasian descent.
17
MacArthur J, Bowler E, Cerezo M, et al. The new NHGRI‐EBI Catalog of published genome‐wide association studies (GWAS Catalog). Nucleic Acids Res 2017; 45 (D1): D896‐D901. …
Curated Studies0 ▼
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Unused Studies0 ▼
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