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Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

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Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune...
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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.
GWAS does not require the identification of the target gene involved in...
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Comparing Copy Number Variations and SNPs02:26

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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Pleiotropy01:33

Pleiotropy

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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Rare genetic variants in systemic autoimmunity.

Simon H Jiang1,2,3, Maurice Stanley1,2, Carola G Vinuesa1,2,4

  • 1Centre for Personalised Immunology, NHMRC Centre for Research Excellence, Acton, ACT, 2601, Australia.

Immunology and Cell Biology
|April 22, 2020
PubMed
Summary

Genetic factors significantly influence autoimmune diseases. While common variants offer slight predisposition, rare variants have a greater impact on disease presentation and function.

Keywords:
Autoimmunitygeneticsgenome-wide association studiesrare variantsrheumatoid arthritissingle-nucleotide polymorphismssystemic lupus erythematosuswhole-genome sequencing

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Area of Science:

  • Immunology
  • Genetics
  • Human Health

Background:

  • Autoimmune diseases cause significant morbidity and mortality.
  • Genetic factors play a crucial role in autoimmune disease development.
  • Previous research focused on common genetic variants with modest effects.

Purpose of the Study:

  • To investigate the role of rare genetic variants in autoimmune diseases.
  • To move beyond genetic association studies to understand functional consequences.
  • To elucidate the genetic basis of autoimmunity.

Main Methods:

  • Analysis of genetic variants in autoimmune disease cohorts.
  • Phenotypic characterization of individuals with identified variants.
  • Functional studies to determine the impact of variants on immune pathways.

Main Results:

  • Rare variants significantly impact autoimmune disease phenotype.
  • Identified specific rare variants contributing to disease susceptibility.
  • Demonstrated functional consequences of these variants in relevant biological systems.

Conclusions:

  • Rare variants are critical determinants of autoimmune disease.
  • Understanding functional consequences of genetic variants is key to elucidating disease mechanisms.
  • This research advances the genetic understanding of autoimmunity.