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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

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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.
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Colloidal solids are solid particles suspended in solution. They are usually negatively charged, attracting a compact primary layer of positively charged ions, which attract more counterions to form an electrical double layer. Electrostatic repulsion between the charged double layers prevents the particles from colliding, stabilizing the colloids. These solids are often undesirable because they can contain toxins that are difficult to remove. Coagulation is a technique that helps aggregate and...
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The coagulation phase is a critical part of the body's process to prevent blood loss following injury to blood vessels. It involves chemical reactions that form a clot to seal the injured area. The clotting process begins shortly after injury, within 15-20 seconds for severe damage and 1-2 minutes for minor injuries.
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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...
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The present-day mitochondrial and chloroplast genomes have retained some of the characteristics of their ancestral prokaryotes and also have acquired new attributes during their evolution within eukaryotic cells. Like prokaryotic genomes, mitochondrial and chloroplast genomes neither bind with histone-like proteins nor show complex packaging into chromosome-like structures, as observed in eukaryotes. Unlike mitotic cell divisions observed in eukaryotic cells, mitochondria and chloroplasts...
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Association areas are regions of the cerebral cortex that do not have a specific sensory or motor function. Instead, they integrate and interpret information from various sources to enable higher cognitive processes such as memory, learning, and decision-making. Some key association areas include the following:
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Comprehensive Autopsy Program for Individuals with Multiple Sclerosis
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Genome-Wide Multiple Sclerosis Association Data and Coagulation.

Sara La Starza1, Michela Ferraldeschi2, Maria Chiara Buscarinu2

  • 1Geriatrics, Neuroscience, Orthopaedics, Head and Neck Department, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy.

Frontiers in Neurology
|March 7, 2019
PubMed
Summary
This summary is machine-generated.

This study reveals a significant link between blood clotting pathways and multiple sclerosis (MS) pathogenesis. Key immune genes like CD40 and plasminogen activator, urokinase (PLAU) highlight potential new therapeutic targets for MS.

Keywords:
cluster of differentiation 40connectivity analysisgenome-wide association studiesmultiple sclerosisplasminogen activatorurokinase gene

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Area of Science:

  • Neuroimmunology
  • Hematology
  • Genetics

Background:

  • Emerging evidence suggests crosstalk between hemostasis, inflammation, and immunity in multiple sclerosis (MS).
  • Coagulation factors and fibrin deposition are implicated in MS pathology, including blood-brain barrier breakdown and innate immune system activation.
  • Circulating coagulation factors show complex imbalances in MS patients.

Purpose of the Study:

  • To investigate the role of the coagulation process in relation to other pathogenic pathways in MS.
  • To analyze the connectivity between coagulation pathways and MS-associated genetic networks.

Main Methods:

  • Systematic matching of genome-wide association studies (GWAS) data with a network of coagulation pathways using MetaCore software.
  • Analysis of network connectivity to identify shared genes and interactions.

Main Results:

  • A significant over-connectivity (958 connections vs. 561 expected, p < 0.00001) was found between coagulation and MS GWAS networks.
  • Genes for cluster of differentiation 40 (CD40) and plasminogen activator, urokinase (PLAU) were identified in both networks.
  • This suggests an interplay between the coagulation cascade and key immune effectors, particularly B cells.

Conclusions:

  • The findings highlight a strong connection between coagulation and MS pathogenesis.
  • The shared genes CD40 and PLAU indicate potential therapeutic targets for MS, especially those involving B cell pathways.