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Related Concept Videos

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.
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Polygenic Traits01:18

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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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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Septic Shock: A Genomewide Association Study and Polygenic Risk Score Analysis.

Shannon D'Urso1, Dorrilyn Rajbhandari2, Elizabeth Peach1

  • 1The University of Queensland Diamantina Institute, University of Queensland, Brisbane, Australia.

Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies
|August 7, 2020
PubMed
Summary

Genetic studies found no major variants for septic shock risk or mortality. However, genetic links to traits like hematocrit and C-reactive protein levels influence susceptibility and survival in septic patients.

Keywords:
Genetic association studygenetic risk scoresgenomicssepsisseptic shock

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Area of Science:

  • Genetics
  • Critical Care Medicine
  • Immunology

Background:

  • Genetic factors potentially influence septic shock susceptibility and outcomes, but previous studies have been inconclusive.
  • No prior genetic association studies or polygenic risk score analyses specifically focused on septic shock patients.

Purpose of the Study:

  • To investigate genetic associations with susceptibility and mortality in septic shock.
  • To perform polygenic risk score analyses for genetic overlap between septic shock and relevant clinical traits.

Main Methods:

  • Genomewide association studies (GWAS) were conducted using data from 493 septic shock patients and 2442 controls.
  • Polygenic risk score (PRS) analyses assessed the genetic overlap between septic shock risk/mortality and traits like hematocrit, granulocyte count, and C-reactive protein levels.

Main Results:

  • No common variants of large effect were significantly associated with septic shock susceptibility or mortality after accounting for potential false positives.
  • PRS for hematocrit and granulocyte count showed negative associations with 28-day mortality.
  • PRS for C-reactive protein levels were positively associated with septic shock susceptibility.

Conclusions:

  • Common genetic variants with large effects are unlikely to be major drivers of septic shock susceptibility, mortality, or resolution.
  • Genetic predispositions to certain clinical traits, such as hematocrit, granulocyte count, and C-reactive protein levels, are significantly associated with septic shock outcomes.