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Related Concept Videos

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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Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...
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Strain-Specific Single-Nucleotide Polymorphisms in Hypertensive ISIAH Rats.

N I Ershov1, A L Markel, O E Redina

  • 1Federal Research Center, Institute of Cytology and Genetics, Siberian Branch of the Russian Academy of Sciences, Novosibirsk, 630090, Russia. oredina@ngs.ru.

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Summary

Researchers identified novel single-nucleotide polymorphisms (SNPs) in ISIAH rats, a model for stress-induced arterial hypertension. These genetic variations may offer new therapeutic targets for hypertension.

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Area of Science:

  • Genetics
  • Cardiovascular Research
  • Pharmacogenomics

Background:

  • Single-nucleotide polymorphisms (SNPs) influence gene expression and protein function, potentially leading to diseases.
  • ISIAH (inherited stress-induced arterial hypertension) rats serve as a valuable model for studying stress-induced hypertension.
  • Understanding genetic variations in hypertensive rat models is crucial for identifying disease mechanisms.

Purpose of the Study:

  • To discover strain-specific single-nucleotide polymorphisms (SNPs) in ISIAH rats using RNA-Seq.
  • To compare ISIAH rat SNPs with existing genome data from other rat strains.
  • To identify novel genetic variants associated with stress-induced arterial hypertension.

Main Methods:

  • RNA-Sequencing (RNA-Seq) was employed to identify SNPs in ISIAH rats.
  • Comparative genomics was performed by analyzing ISIAH SNPs against data from 42 other rat strains.
  • Bioinformatic analysis was used to detect amino acid substitutions and assess their potential functional impact.

Main Results:

  • 1849 novel SNPs were identified exclusively in ISIAH rats.
  • A significant genetic distance was observed between ISIAH rats and other studied rat strains.
  • 158 SNPs were found exclusively in hypertensive rat genotypes, with some causing amino acid substitutions in hypertension-associated genes.

Conclusions:

  • ISIAH rats possess unique genetic profiles, including numerous novel SNPs.
  • The identified SNPs, particularly those in hypertension-related genes, represent potential molecular targets.
  • Further research into these SNPs could advance the therapeutic strategies for stress-induced hypertension.