Genetics Research
rs752306
Population Frequencies12
African
C 0.97738T 0.02262CC 0.954813CT/TC 0.045141TT 0.000047pop=42,844
African American
C 0.97708T 0.02292CC 0.954206CT/TC 0.045745TT 0.000048pop=41,272
African Others
C 0.9854T 0.0146CC 0.970738CT/TC 0.029262TT 0pop=1,572
Asian
C 0.8354T 0.1646CC 0.708188CT/TC 0.254355TT 0.037456pop=6,888
East Asian
C 0.8508T 0.1492CC 0.728682CT/TC 0.244186TT 0.027132pop=5,676
European
C 0.943914T 0.056086CC 0.891125CT/TC 0.105579TT 0.003296pop=310,650
Latin American 1
C 0.9449T 0.0551CC 0.894399CT/TC 0.100963TT 0.004638pop=5,606
Latin American 2
C 0.9642T 0.0358CC 0.929955CT/TC 0.068495TT 0.00155pop=12,906
Other
C 0.93994T 0.06006CC 0.884869CT/TC 0.110146TT 0.004985pop=12,438
Other Asian
C 0.7632T 0.2368CC 0.612211CT/TC 0.30198TT 0.085809pop=1,212
South Asian
C 0.917T 0.083CC 0.841155CT/TC 0.151625TT 0.00722pop=554
Studies26
Unread Studies26 ▼
1
本研究构建“环境× 多基因− 内表型− 行为” 理论框架, 对880 名中学生进行为期半年的追踪研究, 考察了自我控制在父母情感温暖与青少年亲社会行为之间的中介作用; 进一步地, 采用多基因…
2
A perturbação de hiperatividade com défice de atenção (ADHD, do inglês attention deficit hyperactivity disorder) é uma das patologias neurológicas mais prevalentes em pediatria, caracterizando-se por sintomas de inatenção e hiperatividade e/ou impulsividade que conduzem a impedimentos sociais, académicos e profissionais. Compostos ativos derivados da anfetamina como o metilfenidato constituem a terapia farmacológica de primeira linha, devido à sua elevada eficácia na atenuação deste distúrbio. Contudo, limitações tais como efeitos adversos, a potencialização de comorbidades e contraindicações em determinados indivíduos tornam necessária a disponibilidade de alternativas farmacológicas. Alternativas como a atomoxetina e fármacos não estimulantes, como a guanfacina e clonidina, são utilizados como tratamento de segunda linha, no entanto demonstram eficácia inferior e latência de várias semanas no início de ação. Este trabalho de dissertação tem como objetivos a compilação das terapias farmacológicas atualmente aprovados para o tratamento da ADHD, assim como a apresentação de fármacos recentemente aprovados e/ou em desenvolvimento. O trabalho procura comparar estes fármacos quanto ao seu efeito terapêutico, perfil de segurança, e tolerabilidade, de forma a avaliar a possibilidade de uma futura alteração na farmacoterapia deste distúrbio. O desenvolvimento de novos fármacos como a centanafadina e a aprovação da viloxazina para o tratamento deste distúrbio pela FDA refletem o crescente interesse no papel da neurotransmissão serotoninérgica, no controlo da atenção, impulsividade, e regulação emocional. A viloxazina demonstra uma eficácia terapêutica semelhante a outros fármacos de segunda linha, com um perfil de segurança mais favorável comparativamente à atomoxetina. Ensaios clínicos recentes demonstram que a centanafadina apresenta um efeito terapêutico semelhante ao metilfenidato em adultos, com melhor tolerabilidade. No entanto, ensaios comparando estes fármacos diretamente são necessários de forma a aferir sobre os seus efeitos em pediatria a longo prazo. Por outro lado, a aprovação recente da associação serdexmetilfenidato/dexmetilfenidato pela FDA representa uma alternativa de toma única diária a formulações de libertação prolongada de metilfenidato, com um início de ação rápido (30 minutos) e um efeito com uma duração mais prolongada de 13 horas. Palavras-chave: Perturbação de hiperatividade com défice de atenção; Farmacoterapia; Neurofarmacologia; Metilfenidato.
3
摘要本研究构建“环境× 多基因− 内表型− 行为” 理论框架, 对880 名中学生进行为期半年的追踪 研究, 考察了自我控制在父母情感温暖与青少年亲社会行为之间的中介作用; 进一步地, 采用多基因累加分数的研究范式, 探讨多巴胺系统, 血清素系统和催产素系统基因(COMT 基因rs6269, HTR2A 基因rs6313, OXTR 基因rs53576, OXTR 基因rs2254295 和OXTR 基因rs2254298) 如何调节该中介机制, 并检验其中的父母差异. 结果显示:(1) 控制亲社会行为基线水平后, 父母情感温暖不仅正向预测亲社会行为, 还可以通过自我控制对亲 …
4
… 位于 DRD4 第一内含子中非编码区的rs752306 多态性与被证实与儿童攻击行为存在一定相关性(x2 = 5.908, P = 0.05) [33].有研究发现携有DRD2 基因C957T 多态性的TT 基因纯合体与冲动…
5
Attention deficit/hyperactivity disorder (ADHD) is a common disease among children; it affected 5-7% of the population in 2015. ADHD is a multifactorial disease, and its etiology is still not clearly understood.This narrative review has been done by searching the PubMed and Embase databases using attention deficit/hyperactivity disorder, ADHD, risk factors; genetics; pediatrics; psychiatrics as keywords.ADHD is considered to be a hereditary disorder in which genes play the fundamental role in the pathogenesis; however, findings from genetic-environmental studies support the hypothesis that genetic factors can exert effects on an individual's condition by determining his/her responses to environmental exposures, especially those during the prenatal stage.ADHD is considered as a hereditary disorder in which genes and prenatal risk factors play fundamental roles in the pathogenesis.
6
The identification of biomarkers to support the diagnosis and prediction of treatment response for attention-deficit/hyperactivity disorder (ADHD) is still a challenge. Our previous works …
7
Когнитивные способности (КС) играют важную роль для полноценной жизни каждого человека. Способность запоминать, понимать других людей, мыслить и говорить –все это …
8
Attention-deficit/hyperactivity disorder (ADHD) is a significant neurobehavioral disorder in children and adolescence which may be affected by diet. Objective To evaluate the possible relationship between sugar consumption and the development of symptoms of ADHD. Methods In March 2020, an exhaustive systematic literature search was conducted using Google Scholar, PubMed, and Scopus. In this meta-analysis of observational studies, odds ratios, relative risks, hazard ratios, and their 95% confidence intervals, which was reported for ADHD regarding SSBS, soft drink consumption, and dietary sugars, were used to calculate ORs and standard errors. At first, a fixed-effects model was used to drive the overall effect sizes using log ORs and SEs. If there was any significant between-studies heterogeneity, the random-effects model was conducted. Cochran’s Q test and I2 were used to measure potential sources of heterogeneity across studies. The Newcastle-Ottawa scale was used to assess the quality of the included articles. Results Seven studies, two cross-sectional, two case-control, and three prospective with a total of 25,945 individuals were eligible to include in the current meta-analysis. The association between sugar and soft drink consumption and the risk of ADHD symptoms were provided based on the random-effects model (pooled effect size: 1.22, 95%CI: 1.04-1.42, P = 0.01) (I² = 81.9%, P heterogeneity Conclusion This meta-analysis indicated a positive relationship between overall sugar and sugar-sweetened beverages consumption and symptoms of ADHD; however, there was heterogeneity among included studies. Future well-designed studies that can account for confounds are necessary to confirm the effect of sugar on ADHD.
9
Attention Deficit Hyperactivity Disorder (ADHD) is a prevalent chronic psychiatric condition in children world wide. This study was aimed to provide an overview of food groups and dietary patterns in ADHD children as a systematic review. Methods The relation between dietary patterns and this disorder was also investigated through meta-analysis. Databases including Google Scholar, SCOPUS, ISI Web of science, and PubMed were searched up to June 2017. Studies on posteriori derived dietary patterns and food intakes of ADHD children were included. The achieved Relative Risks (RR) and Odds Ratio (OR) were pooled together for ADHD to compare the most and the least adherence to major dietary patterns. The heterogeneity was assessed by Cochran's Q test and I-squared methods. Results This systematic review consisted of 6 dietary patterns and 6 foods or macronutrients studies. In this regard, 6 dietary patterns studies (n: 8816) were included in the meta-analysis. The pooled analysis established that “healthy” dietary pattern significantly decreased the risk of ADHD (OR: 0·63; 95% CI: 0·41, 0·96), whereas “Western” (OR: 1.92; 95% CI: 1.13, 3.26; p:0.016) and “junk food” (OR: 1.51; 95% CI: 1.06, 2.16; p: 0.024) dietary patterns increased it. Conclusions “Healthy” dietary pattern highly loaded with vegetables, fruits, legumes, and fish has decreased the odds of ADHD up to 37%. In addition, adherence to “junk food” pattern containing sweetened beverages and desserts as well as “Western” dietary pattern including red meat, refined grains, processed meats, and hydrogenated fat increased it.
10
Представлен обзор результатов молекулярно-генетических исследований когнитивных способностей. До настоящего времени в этих исследованиях обнаружено небольшое количество генов, ответственных за нормальное когнитивное функционирование, несмотря на активное проведение анализов генов-кандидатов, полногеномных анализов ассоциации и анализов сцепления. Необходимо иметь в виду, что даже в тех случаях, когда генетические варианты статистически значимо ассоциированы с когнитивными фенотипами, размеры эффекта, как правило, очень малы (1–2%). Однако выполненные в последние несколько лет крупномасштабные генетические исследования значительно расширили знания о молекулярных основах когнитивных способностей человека и позволили объяснить до 20% из 50% наследуемости интеллекта.
11
The paper presents a review of the results of molecular genetic studies of cognitive abilities. To date, a small number of genes responsible for normal cognitive functioning have been detected despite numerous studies based on the approach of candidate genes, genome-wide association studies, and linkage analyses. It should be considered that, even when the genetic variants were significantly associated with cognitive phenotypes, the sizes of the effect were usually very low (1–2%). However, large-scale genetic studies performed in the last few years significantly expanded the knowledge on the molecular basis of human cognitive abilities and made it possible to explain up to 20% of the 50% inheritance of intelligence.
12
The aim of this study was to clarify the association between organophosphate pesticides (OPs) and attention-deficit/hyperactivity disorder (ADHD) related to oxidative stress …
13
… Children who carried DRD4 GA/AA genotypes (rs752306) were less likely than those who carried the DRD4 GG genotype to have ADHD (odds ratio [OR]: 0.45, 95% CI: 0.24–0.84). The …
14
Genetic predisposition is an important factor leading to aggressive behavior. However, the relationship between genetic polymorphisms and aggressive behavior has not been elucidated.
15
… We observed a nominal significant difference in a DRD4 gene polymorphism (rs752306) between the case and control groups. However, the difference may have resulted from the …
16
… education levels, maternal drinking during pregnancy, family history of nervous system disease, and DRD4 genetic variations in rs7395429, rs3758653, rs11246228, and rs752306. OP …
17
… /fruit/vegetables, family history of nervous system diseases, parental education levels, maternal alcohol consumption during pregnancy, and gene polymorphism of DRD4 at rs752306 …
18
This study aimed to investigate the association of multiple candidate genes with weight gain and appetite change during antipsychotic treatment. Methods: A total of 233 single nucleotide polymorphisms (SNPs) within 60 candidate genes were genotyped. BMI changes for up to 8 weeks in 84 schizophrenia patients receiving antipsychotic medication were analyzed using a linear mixed model. In addition, we assessed appetite change during antipsychotic treatment in a different group of 46 schizophrenia patients using the Drug-Related Eating Behavior Questionnaire. Results: No SNP showed a statistically significant association with BMI or appetite change after correction for multiple testing. We observed trends of association (P<0.05) between 19 SNPs of 11 genes and weight gain, and between 7 SNPs of 5 genes and appetite change. In particular, rs696217 in GHRL showed suggestive evidence of association with not only weight gain (P=0.001) but also appetite change (P=0.042). Patients carrying the GG genotype of rs696217 exhibited higher increase in both BMI and appetite compared to patients carrying the GT/TT genotype. Discussion: Our findings suggested the involvement of a GHRL polymorphism in weight gain, which was specifically mediated by appetite change, during antipsychotic treatment in schizophrenia patients.
19
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.
20
… In this study, we demonstrated that SNPs rs752306 and … positive SNPs (rs3758653 and rs752306) in the family sample … the alternatives of rs3758653 and rs752306. Since all these were …
21
… As our sample contained only one TT homozygote at rs752306, we collapsed it into the … The one homozygous TT subject at rs752306 within our sample was collapsed with the …
22
An interactive visualisation tool (Aracari) was developed to analyze eQTL data. Aracari consists of two linked viewing modes: a gene expression view and a SNP view. An eQTL data set with spiked-in simulated data was provided by the BioVis2012 visualisation contest and analyzed by a non-domain expert; the results were assessed against the list of known spiked-in signals. Using this visualization tool, we were able to identify nine genes relevant to a disease while the defacto-standard biological experts eQTL toolkit (PLINK) could only detect six. We also identified numerous haplotype regions of relevance. However, the identification of individual specific genetic variants lagged PLINK, highlighting a key difference between the strengths of visual analytics, and direct statistical approaches for this data. A screencast illustrating use of the tool can be found at http://vimeo. com/user6757771/aracari.
23
Associations between DRDs and schizophrenia in a Korean population: multi-stage association analyses
… In the final stage, with the extended sample, the suggestive association of DRD4 with rs752306 was lost, but the association of DRD1 with rs1799914 gained greater significance (P= …
24
ABO blood groups have been studied for associations with personality traits with no scientific consensus of positive findings. Because of previously known variations in population frequency distributions of ABO blood groups and newly discovered single nucleotide polymorphisms in ABO gene in the human genome project, associations of personality traits and health risks with ABO blood groups continue to be delineated with increasing specificity. One of the catecholamine enzymes, DBH, dopamine beta hydroxylase, is in tight linkage disequilibrium with the ABO locus. Because personality traits as well as illnesses have been linked to the catecholamine genes, the DBH/ABO linkage may contribute to stratification of ABO blood groups in personality traits as well as in illnesses. Hapmap population frequcncy distributions are similar for ABO blood group B and for low activity of the major allelic marker contributing to variation in DBH activity, rs1611115. And linkage disequilibrium within the ABO locus is consistent with this. Further, review of the publically available genomes of two individuals, Craig Venter and James Watson, and their biographical information is also supportive of this association. Both Venter and Watson appear to have both non-B ABO blood group and high activity DBH and to have dopamine genotypes consistent with Persistence personality trait research as well as to evidence this trait in publically available biographical information. This hypothesis can be verified by comparing genotypes of ABO and DBH and personality traits in large populations. The Cloninger trait of Persistence has been associated with dopamine neurotransmission and is likely related to the ABO/DBH linkage via the role of DBH in determining the dopamine:norepinephrine ratio. Low DBH is known to be associated with trait Impulsiveness so it would appear that impulsiveness may be related to a higher dopamine to norepinephrine ratio, and based on research demonstrating the role of dopamine neurotransmission in the expression of motivation as well as trait Persistence, the likely situation is that lower tonic dopaminergic transmission produces Persistent action and higher tonic dopaminergic transmission produces Impulsive action. If large population genetic studies confirm this hypothesis, given the widespread availability of data on ABO blood groups in virtually every population, new light could be shed on the biochemical underpinnings of human behavior both at the level of the individual and at the level of societies and cultures.
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… Four SNPs were genotyped throughout DRD4, including rs3758653, rs916457, rs752306, and rs7124601. These SNPs were selected as tag SNPs to explain the linkage disequilibrium …
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Knowledge of genetic polymorphisms in gene-environment studies may contribute to more accurate identification of avoidable risks and to developing tailor-made preventative …
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