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Related Concept Videos

Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
16.8K
Glucose Transporters01:27

Glucose Transporters

26.0K
Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders01:27

Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders

1.2K
Schizophrenia is a neurodevelopmental disorder whose origins are rooted in complex genetic components. Despite our burgeoning understanding, the pathophysiology of this disorder remains incompletely deciphered.
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...
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Related Experiment Video

Updated: Oct 16, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

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The dopamine transporter gene SLC6A3: multidisease risks.

Maarten E A Reith1, Sandhya Kortagere2, Corinde E Wiers3,4

  • 1Department of Psychiatry, New York University School of Medicine, New York City, NY, 10016, USA.

Molecular Psychiatry
|October 15, 2021
PubMed
Summary

The human dopamine transporter gene SLC6A3 is linked to multiple neuropsychiatric and neurological disorders. Genetic variations in SLC6A3 contribute to conditions like ADHD, autism, and movement disorders, highlighting its complex role.

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Area of Science:

  • Neurogenetics
  • Molecular Psychiatry
  • Disease Etiology

Background:

  • The human dopamine transporter gene (SLC6A3) is implicated in various neuropsychiatric diseases.
  • The precise disease mechanisms involving SLC6A3 remain largely unknown.
  • Familial mutations in SLC6A3 are increasingly associated with neurological and psychiatric conditions.

Purpose of the Study:

  • To synthesize evidence on SLC6A3 as a risk factor for neuropsychiatric and neurological disorders.
  • To explore the relationship between SLC6A3 genetic variations and specific disease phenotypes.
  • To evaluate the potential of promoter region markers in understanding gene-disease associations.

Main Methods:

  • Risk synthesis approach analyzing familial mutants and genetic associations.
  • Examination of SLC6A3 variants linked to alcohol use disorder, ADHD, autism, and movement disorders.
  • Analysis of genetic markers, ethnicity, haplotype selection, and gene-wide epistasis.

Main Results:

  • SLC6A3 is associated with at least five loci related to common and severe diseases.
  • Specific variants (high/low activity) are linked to alcohol use disorder and ADHD.
  • Familial mutations and regulatory variants in SLC6A3 are implicated in autism and movement disorders.
  • Association signals vary based on genetic markers and ethnicity.
  • Haplotype selection and gene-wide epistasis support multimarker assessment.

Conclusions:

  • SLC6A3 represents a significant and recognized genetic risk factor for a spectrum of neuropsychiatric and neurological disorders.
  • Functional markers in the promoter region, like DNPi and 5'VNTR, may be crucial for risk assessment.
  • Further research should test a locus-pathway-phenotype hypothesis for SLC6A3's role in single-gene, multi-disease etiology.