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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...
Genetic Screens02:46

Genetic Screens

Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which result in visible changes...
DNA Microarrays02:34

DNA Microarrays

Microarrays are high-throughput and relatively inexpensive assays that can be automated to analyze large quantities of data at a time. They are used in genome-wide studies to compare gene or protein expression under two varied conditions, such as healthy and diseased states. Microarrays consist of glass or silica slides on which probe molecules are covalently attached through surface functionalization. Most commonly, the slides are prepared through the chemisorption of silanes to silica...
Human Genetics01:28

Human Genetics

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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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay (EMSA) and DNA-affinity Precipitation Assay (DAPA)
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Voxelwise genome-wide association study (vGWAS).

Jason L Stein1, Xue Hua, Suh Lee

  • 1Laboratory of Neuro Imaging, Department of Neurology, University of California, Los Angeles School of Medicine, Neuroscience Research Building 225E, 635 Charles Young Drive, Los Angeles, CA 90095-1769, USA.

Neuroimage
|February 23, 2010
PubMed
Summary
This summary is machine-generated.

This study explored genetic influences on human brain structure using advanced neuroimaging and genome-wide data. While no single genetic variant reached strict significance, novel genes like CSMD2 and CADPS2 were identified for further research.

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Area of Science:

  • Neurogenetics
  • Brain Imaging
  • Human Genetics

Background:

  • Human brain structure is highly heritable, influenced by numerous common genetic variants.
  • Many genetic contributors to brain structure remain undiscovered.
  • Advances in neuroimaging and genetics enable large-scale studies of brain structure and genotype.

Purpose of the Study:

  • To investigate the relationship between common genetic variants and human brain structure.
  • To identify novel genes influencing brain structure using a voxelwise genome-wide association study (GWAS) approach.
  • To develop a novel method for analyzing large-scale neuroimaging and genetic datasets.

Main Methods:

  • Utilized tensor-based morphometry to assess individual brain structure differences at the voxel level.
  • Conducted a voxelwise genome-wide association study across 31,622 brain voxels in 740 elderly subjects.
  • Implemented a novel method focusing on the most associated variant per voxel to manage computational complexity and multiple comparisons.

Main Results:

  • No single nucleotide polymorphism (SNP) met the stringent statistical threshold for significance.
  • Identified several candidate genes, including CSMD2 and CADPS2, with potential relevance to brain structure.
  • The study represents the first known voxelwise GWAS for brain structure.

Conclusions:

  • This voxelwise GWAS provides a novel methodology for discovering genetic influences on brain structure.
  • CSMD2 and CADPS2 are highlighted as genes warranting further investigation for their role in brain structure.
  • The findings contribute to understanding the genetic architecture of human brain structure.