Genetics Research
rs10840491
Population Frequencies12
African
G 0.86011A 0.13989GG 0.740428GA/AG 0.239356AA 0.020216pop=47,586
African American
G 0.85982A 0.14018GG 0.739895GA/AG 0.239852AA 0.020253pop=45,920
African Others
G 0.8679A 0.1321GG 0.755102GA/AG 0.22569AA 0.019208pop=1,666
Asian
G 0.8204A 0.1796GG 0.673033GA/AG 0.294755AA 0.032212pop=7,016
East Asian
G 0.815A 0.185GG 0.664718GA/AG 0.30055AA 0.034732pop=5,816
European
G 0.865968A 0.134032GG 0.749568GA/AG 0.232801AA 0.017632pop=306,382
Latin American 1
G 0.8501A 0.1499GG 0.723217GA/AG 0.253849AA 0.022934pop=6,366
Latin American 2
G 0.78036A 0.21964GG 0.612626GA/AG 0.335472AA 0.051903pop=13,718
Other
G 0.85892A 0.14108GG 0.741183GA/AG 0.23548AA 0.023337pop=11,398
Other Asian
G 0.8467A 0.1533GG 0.713333GA/AG 0.266667AA 0.02pop=1,200
South Asian
G 0.814A 0.186GG 0.666667GA/AG 0.294326AA 0.039007pop=564
Studies11
Unread Studies11 ▼
1
Most genetic analyses that have attempted to identify a locus or loci that can distinguish patients with treatment-resistant schizophrenia (TRS) from those who respond to treatment (non-TRS) have failed. However, evidence from multiple studies suggests that patients with schizophrenia who respond well to antipsychotic medication have a higher dopamine (DA) state in brain synaptic clefts whereas patients with TRS do not show enhanced DA synthesis/release pathways...
2
Sickle cell disease (SCD) is a genetic blood disorder characterized by debilitating episodes of acute pain along with lifelong chronic pain. Pain is not only the major reason for high …
3
The smoking behavior of American Indians (AI) differs from that of non-Hispanic whites (NHW). Typically light smokers, cessation interventions in AIs are generally less effective. To develop more effective cessation programs for AIs, clinicians, researchers, and public health workers need a better understanding of the genetic factors involved in their smoking behavior. Our aim was to assess whether SNPs associated with smoking behavior in NHWs are also associated with smoking in AIs.We collected questionnaire data on smoking behaviors and analyzed blood and saliva samples from two Tribal populations with dramatically different cultures and smoking prevalence, one in the Northern Plains (n = 323) and the other in the Southwest (n = 176). A total of 384 SNPs were genotyped using an Illumina custom GoldenGate platform. Samples were also assessed for cotinine and 3-hydroxycotinine as markers of nicotine intake and nicotine metabolite ratio.Among 499 participants, we identified, in the Northern Plains sample only, a variant of the gamma-aminobutyric acid receptor subunit alpha-2 (GABRA2) (rs2119767) on chromosome 4p that was associated with many of the intake biomarkers of smoking we examined, suggesting a role for this gene in modifying smoking behavior in this population. We also identified three SNPs, in the Southwest sample only, as significant correlates of only cigarettes per day: rs4274224, rs4245147 (both dopamine receptor D2 gene), and rs1386493 (tryptophan hydroxylase 2 gene).The contribution of many genes known to underlie smoking behaviors in NHWs may differ in AIs.Once validated, these variants could be useful in developing more effective cessation strategies.
4
High altitude pulmonary edema (HAPE) occurs mainly under conditions such as high altitude, rapid ascent, or hypoxia. Previous studies suggest that ADRB2, GNB3, TH, and GSTP1 polymorphisms are associated with various lung diseases. We evaluated whether those polymorphisms are associated with the risk of HAPE in a Chinese Han population. ADRB2, GNB3, TH and GSTP1 polymorphisms were genotyped using a Sequenom MassARRAY. Logistic regression, adjusted for age and gender, was used to evaluate the association between the genotypes and the risk of HAPE by computing odds ratios (ORs) and 95% confidence intervals (95% CIs). The results revealed that GNB3 rs4963516 allele ‘‘G’’ (G vs T: OR = 0.70, 95% CI = 0.55–0.90, p = 0.006) was associated with HAPE risk. The ADRB2 rs1042718 alleles had a 1.29-fold (95%CI = 1.00-1.66; p = 0.045) increased risk of HAPE, and the GSTP1 rs749174 alleles had a 0.71-fold (95%CI = 0.52-0.99; p = 0.042) decreased risk of HAPE. Co-dominant and dominant models of GNB3 rs4963516 decreased the risk of HAPE (p = 0.023 and p = 0.008, respectively). Our results indicate GNB3 and GSTP1 polymorphisms may protect against HAPE progression, while ADRB2 polymorphisms are associated with an increased risk of HAPE...
5
To examine the role of genetic and environmental factors in the pathogenesis of alcohol dependence in a Spanish cohort of women and men...
6
Dopamine, serotonin and noradrenaline are the major mono amines in the human central nervous system (CNS) and following their basic pathways they are degraded to their major metabolites homovanillic acid (HVA), 5-hydroelectrically acid (5-HIAA) and 3-methoxy-4-hydroelectrically (MHPG), respectively. The cerebrospinal fluid (CSF) concentrations of the three mono amine metabolites (MM) are considered to reflect the mono amine turnover rates in the CNS, are under genetic influence and have been associated with schizophrenia...
7
Healthy aging is a complex phenotype, and genetic factors that contribute to long term good health are not well understood. Longevity and health are associated with lifestyle choices. Behaviour is governed by personality; therefore, variation in personality-related genes may affect healthy aging. Five candidate genes involved in the physiology of personality and personality disorders were identified from the literature: COMT, DRD4, MAOA, SLC6A4, and TH. Single nucleotide polymorphisms and variable number of random repeat polymorphisms were genotyped in DNA from 493 European-ancestry healthy oldest-old and 431 European-ancestry middle-aged controls. Tests for allelic associations were conducted, with stratification by sex. No associations remained significant after correction for multiple tests. Variants tested in these candidate genes were not associated with long-term good health in this sample. Either genetic variation in these genes does not influence healthy aging, or true effects exist that are too small to be detected in this study...
8
… In the present study three TH SNPs, ie rs10770141, rs10840491 and rs10840489, were … To our knowledge rs10840491 and rs10840489 have not been ascribed any functionality or …
9
Posttraumatic stress disorder (PTSD), a pathologic response to severe stress, is a common co‐morbid disorder in substance‐dependent individuals. Evidence from twin studies suggests that PTSD is moderately heritable. Genetic association studies to date have reported a limited number of replicated findings. We conducted a candidate gene association study in trauma‐exposed individuals within the Comorbidity and Trauma Study's sample (1343 heroin‐dependent cases and 406 controls from economically disadvantaged neighborhoods). After data cleaning, the 1430 single nucleotide polymorphisms (SNPs) retained for analyses provided coverage of 72 candidate genes and included additional SNPs for which association was previously reported as well as 30 ancestry‐informative markers. We found a functional DRD2 promoter polymorphism (rs12364283) to be most highly associated with PTSD liability [odds ratio (OR) 1.65 (1.27–2.15); P = 1.58 × 10−4]; however, this association was not significant, with a stringent Bonferroni correction for multiple comparisons. The top hits include SNPs from other dopaminergic system genes: DRD2 DRD3, TH and DBH. Additional analyses revealed that the association involving rs12364283 is largely limited to amphetamine‐dependent individuals. Substantial risk is observed in amphetamine‐dependent individuals, with at least one copy of this SNP [OR 2.86 (1.92–4.27); P = 2.6 × 10−7]. Further analyses do not support extensive mediation of PTSD risk via self‐reported impulsivity (BIS total score). These findings suggest roles for impairment in inhibitory control in the pathophysiology of PTSD and raise questions about stimulant use in certain populations (e.g. those in combat).
10
Homovanillic acid (HVA), 5-hydroxyindoleacetic acid (5-HIAA) and 3-methoxy-4-hydroxyphenylglycol (MHPG) are the major monoamine metabolites in the central nervous system (CNS). Their cerebrospinal fluid (CSF) concentrations, reflecting the monoamine turnover rates in CNS, are partially under genetic influence and have been associated with schizophrenia. We have hypothesized that CSF monoamine metabolite concentrations represent intermediate steps between single nucleotide polymorphisms (SNPs) in genes implicated in monoaminergic pathways and psychosis. We have searched for association between 119 SNPs in genes implicated in monoaminergic pathways [tryptophan hydroxylase 1 (TPH1), TPH2, tyrosine hydroxylase (TH), DOPA decarboxylase (DDC), dopamine beta-hydroxylase (DBH), catechol-O-methyltransferase (COMT), monoamine oxidase A (MAOA) and MAOB] and monoamine metabolite concentrations in CSF in 74 patients with psychotic disorder. There were 42 nominally significant associations between SNPs and CSF monoamine metabolite concentrations, which exceeded the expected number (20) of nominal associations given the total number of tests performed. The strongest association (p = 0.0004) was found between MAOB rs5905512, a SNP previously reported to be associated with schizophrenia in men, and MHPG concentrations in men with psychotic disorder. Further analyses in 111 healthy individuals revealed that 41 of the 42 nominal associations were restricted to patients with psychosis and were absent in healthy controls. The present study suggests that altered monoamine turnover rates in CNS reflect intermediate steps in the associations between SNPs and psychosis.
11
Tyrosine hydroxylase (TH) catalyzes the hydroxylation of L-tyrosine to 3, 4-dihydroxy-L-phenylalanine. This reaction is the rate-limiting step in the biosynthesis of catecholamines. Dopamine and norepinephrine alterations and their genetic components have been implicated in schizophrenia, making the TH gene (11p15) a candidate for the disorder. Exon 3 of the human TH gene encodes the amino acid sequence from Ser31 to Glu104 of type 1 enzyme, which contains critical parts for regulation of the catalytic activity (Ota et al., 2001). A frequent guanine to adenine transition changes the amino acid at position 81 from valine to methionine. In this study, the association between this polymorphism (Val81Met, rs6356) and schizophrenia was investigated.
Curated Studies0 ▼
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