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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
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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.
GWAS does not require the identification of the target gene involved in...
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Mismatch Repair01:20

Mismatch Repair

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Organisms are capable of detecting and fixing nucleotide mismatches that occur during DNA replication. This sophisticated process requires identifying the new strand and replacing the erroneous bases with correct nucleotides. Mismatch repair is coordinated by many proteins in both prokaryotes and eukaryotes.
The Mutator Protein Family Plays a Key Role in DNA Mismatch Repair
The human genome has more than 3 billion base pairs of DNA per cell. Prior to cell division, that vast amount of genetic...
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Oxygenation-sensitive Cardiac MRI with Vasoactive Breathing Maneuvers for the Non-invasive Assessment of Coronary Microvascular Dysfunction
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Single Nucleotide Polymorphisms in Coronary Microvascular Dysfunction.

Andrew P Stein1, Jonathan Harder1, Henry R Holmes1

  • 1Department of Medicine University of Florida Gainesville FL USA.

Journal of the American Heart Association
|February 13, 2024
PubMed
Summary
This summary is machine-generated.

Coronary microvascular dysfunction may have genetic links. This review explores single nucleotide polymorphisms associated with this condition, offering insights into its potential genetic basis.

Keywords:
coronary microvascular dysfunctionsingle nucleotide polymorphism, genetic

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Area of Science:

  • Cardiology
  • Genetics
  • Pathology

Background:

  • Coronary microvascular dysfunction (CMD) is an underdiagnosed condition linked to poor clinical outcomes.
  • Emerging evidence suggests a potential genetic component influencing CMD development.
  • Understanding genetic factors is crucial for advancing CMD diagnosis and treatment.

Purpose of the Study:

  • To provide an updated review of single nucleotide polymorphisms (SNPs) associated with coronary microvascular dysfunction.
  • To synthesize current knowledge on the genetic underpinnings of CMD.
  • To highlight the role of genetic variations in CMD pathogenesis.

Main Methods:

  • Literature review of studies investigating genetic polymorphisms and CMD.
  • Analysis of published data on single nucleotide polymorphisms relevant to coronary microvascular function.
  • Synthesis of findings from genetic association studies.

Main Results:

  • Identification of specific single nucleotide polymorphisms implicated in coronary microvascular dysfunction.
  • Summary of genetic variants potentially influencing endothelial function and vascular tone.
  • Overview of the current genetic landscape of CMD.

Conclusions:

  • Genetic factors, particularly specific SNPs, may play a significant role in the susceptibility and manifestation of coronary microvascular dysfunction.
  • Further research into the genetic determinants of CMD is warranted.
  • Genetic insights could lead to novel diagnostic and therapeutic strategies for CMD.