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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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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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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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The hosts' susceptibility to infection depends on several factors. The integrity of the skin and mucous membranes helps protect the body against microbial attacks. When the skin is altered, the chance of infection, limb loss, and even death increases.
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Quorum sensing is a mechanism of bacterial communication that enables coordinated gene expression in response to changes in population density. This facilitates collective behaviors that enhance survival, resource acquisition, and ecological adaptation. This process relies on small signaling molecules called autoinducers that accumulate as bacterial populations grow. When a critical threshold concentration of autoinducers is reached, bacterial cells collectively modify gene expression,...
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Related Experiment Video

Updated: Sep 30, 2025

A Data-Driven Approach to Quantifying Immune States in Sepsis
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A Data-Driven Approach to Quantifying Immune States in Sepsis

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Genetic variants associated with sepsis.

Milo Engoren1, Elizabeth S Jewell1, Nicholas Douville1

  • 1Department of Anesthesiology, University of Michigan, Ann Arbor, MI, United States of America.

Plos One
|March 11, 2022
PubMed
Summary
This summary is machine-generated.

Genetic variants contribute to sepsis risk. Researchers developed a polygenic risk score, identifying numerous genetic variants associated with sepsis (Sepsis-2 and Sepsis-3), which cumulatively show good predictive ability.

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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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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Genetics
  • Genomics
  • Medical Research

Background:

  • Sepsis presents with diverse phenotypes, suggesting a polygenic basis for disease susceptibility.
  • Individual genetic profiles can inform sepsis risk assessment.

Purpose of the Study:

  • To develop a polygenic risk score (PRS) for sepsis.
  • To identify specific genetic variants associated with sepsis.

Main Methods:

  • Genome-wide association study (GWAS) on ~14 million single nucleotide polymorphisms (SNPs) in sepsis patients and controls.
  • Firth bias-corrected logistic regression for genome-wide association.
  • Semi-parsimonious logistic regression for PRS construction and identification of independent genetic variants.

Main Results:

  • The study included 2,261 sepsis cases and 13,068 controls.
  • Polygenic risk scores demonstrated good discrimination (c-statistic ≈ 0.75) for both Sepsis-2 and Sepsis-3.
  • Identified 772 variants for Sepsis-2 and 442 for Sepsis-3 (p<0.01), with 100 variants (85 genes) and 69 variants (54 genes) independently associated after adjustment, respectively.
  • Found 25 shared variants across Sepsis-2 and Sepsis-3, with most variants exhibiting small effect sizes.

Conclusions:

  • Sepsis susceptibility involves both shared and distinct genetic variants between Sepsis-2 and Sepsis-3 classifications.
  • While individual genetic variants have minor effects, their cumulative impact, as captured by PRS, provides significant predictive value for sepsis risk.