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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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Ischemic stroke is an acute cerebrovascular condition in which blood flow to a brain region is suddenly interrupted, leading to tissue infarction. Neurons depend on continuous oxygen and glucose supply, so even brief reductions in perfusion cause energy failure, ionic imbalance, and irreversible injury. Ischemic strokes are classified into thrombotic and embolic types based on their underlying mechanisms.Thrombotic MechanismsThrombotic stroke develops when a clot forms within a cerebral artery.
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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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Association between NINJ2 gene polymorphisms and ischemic stroke: a family-based case-control study.

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This study identified genetic variants in NINJ2 and protein kinase C η associated with ischemic stroke (IS) risk. Smoking further elevated risk in individuals with the NINJ2 rs11833579 AA genotype.

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Area of Science:

  • Genetics
  • Neurology
  • Epidemiology

Background:

  • Identifying novel susceptibility genes for ischemic stroke (IS) is crucial.
  • Population-based studies risk false positives due to stratification.
  • Family-based designs offer a robust approach to mitigate stratification bias.

Purpose of the Study:

  • To investigate genetic associations with ischemic stroke (IS) using a family-based design.
  • To identify specific single nucleotide polymorphisms (SNPs) conferring IS susceptibility.
  • To explore potential gene-environment interactions, particularly with smoking.

Main Methods:

  • A family-based study involving 229 IS patients and their 229 non-IS siblings in Beijing.
  • Sibship discordant tests and conditional logistic regression were employed.
  • Analysis focused on association between SNPs and IS, effect size estimation, and gene-environment interactions.

Main Results:

  • Significant allelic association found between NINJ2 rs11833579 (P=0.008) and protein kinase C η rs2230501 (P=0.039) with IS.
  • The NINJ2 rs11833579 AA genotype increased IS risk by 1.51-fold (P=0.043) in a dominant model (OR 2.69, P=0.036).
  • IS risk was significantly higher (HR 3.58, P=0.003) for rs11833579 AA genotype carriers who also smoked.

Conclusions:

  • The A allele of NINJ2 rs11833579 may contribute to ischemic stroke susceptibility.
  • A gene-environment interaction exists, with smoking amplifying the risk conferred by the rs11833579 AA genotype.
  • This study highlights specific genetic factors and their interplay with lifestyle in IS etiology.