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Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder
A genome-wide association meta-analysis of 20,183 individuals diagnosed with ADHD and 35,191 controls identifies variants surpassing genome- wide significance in 12 independent loci and implicates neurodevelopmental pathways and conserved regions of the genome as being involved in underlying ADHD biology.
DCDC2 is associated with reading disability and modulates neuronal development in the brain.
- H. Meng, Shelley D. Smith, J. Gruen
- BiologyProceedings of the National Academy of Sciences…
- 22 November 2005
RT-PCR data show that DCDC2 localizes to the regions of the brain where fluent reading occurs, and RNA interference studies show that down-regulation alters neuronal migration.
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor.
Some synonymous mutations in the human DRD2 have functional effects and suggest a novel genetic mechanism, calling into question some assumptions made about synonymous variation in molecular population genetics and gene-mapping studies of diseases with complex inheritance, and indicate that synonymous variation can have effects of potential pathophysiological and pharmacogenetic importance.
Social supports and serotonin transporter gene moderate depression in maltreated children.
- J. Kaufman, Bao-Zhu Yang, J. Gelernter
- PsychologyProceedings of the National Academy of Sciences…
- 7 December 2004
Risk for negative outcomes may be modified by both genetic and environmental factors, with the quality and availability of social supports among the most important environmental factors in promoting resiliency in maltreated children, even in the presence of a genotype expected to confer vulnerability for psychiatric disorder.
Brain-Derived Neurotrophic Factor–5-HTTLPR Gene Interactions and Environmental Modifiers of Depression in Children
Serotonin transporter protein (SLC6A4) allele and haplotype frequencies and linkage disequilibria in African- and European-American and Japanese populations and in alcohol-dependent subjects
The population differences demonstrate a potential for population stratification in association studies of either of these SLC6A4 polymorphisms, and could reflect either different behavioral adaptations in different populations, or random genetic drift of a behaviorally important but selectively neutral polymorphism.
Interaction of FKBP5 with Childhood Adversity on Risk for Post-Traumatic Stress Disorder
Evidence is provided of a gene × environment effect of FKBP5 and childhood abuse on the risk for PTSD in AAs and in EAs that moderated the risk of PTSD that was associated with childhood abuse.
Allelic and haplotypic association of GABRA2 with alcohol dependence
- J. Covault, J. Gelernter, V. Hesselbrock, M. Nellissery, H. Kranzler
- MedicineAmerican journal of medical genetics. Part B…
- 15 August 2004
Ten single nucleotide polymorphisms spanning the coding region of this gene were examined in samples of European American subjects with alcohol dependence, and controls screened to exclude substance use disorders, which underscore the potential contribution of polymorphic variation at the GABRA2 locus to the risk for alcohol dependence.
Genome-wide association study of alcohol dependence:significant findings in African- and European-Americans including novel risk loci
A GWAS of alcohol dependence in European-American and African-American populations, with replication in independent samples of EAs, AAs and Germans, finds a convergence of risk genes between populations, and, to a lesser extent, between psychiatric traits.
A quantitative-trait analysis of human plasma-dopamine beta-hydroxylase activity: evidence for a major functional polymorphism at the DBH locus.
It is demonstrated that --1021C-->T is a major genetic marker for plasma-D beta H activity and provide new tools for investigation of the role of both D beta H and the DBH gene in human disease.