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Related Concept Videos

Ischemic Heart Disease: Overview01:17

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Ischemic heart disease occurs when the heart's blood supply dwindles, causing an ominous lack of oxygen and nutrients. This deficiency, stemming from reduced or obstructed blood flow, spells danger, leading to heart muscle damage and dysfunction.
Atherosclerosis, the primary malefactor, orchestrates this dangerous condition. It manifests as the accumulation of fatty deposits, akin to insidious plaques, within arterial walls. As time elapses, these plaques metamorphose, hardening and...
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Related Experiment Video

Updated: Dec 9, 2025

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Exome Array Analysis of Early-Onset Ischemic Stroke.

Thomas Jaworek1, Kathleen A Ryan1, Brady J Gaynor1

  • 1University of Maryland School of Medicine, Baltimore, MD (T.J., K.A.R., B.J.G., P.F.M., O.C.S., T.D.O., H.L., S.J.K., B.D.M., H.X., J.W.C.).

Stroke
|September 11, 2020
PubMed
Summary
This summary is machine-generated.

Rare genetic variants in the exome may contribute to early-onset ischemic stroke. This study identified a significant association with NAT10 in small-vessel stroke, highlighting exome analysis as a promising strategy for discovering genetic risk factors.

Keywords:
early-onsetexomeexonsglucosepenetrancesingle nucleotide polymorphismstroke

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Area of Science:

  • Genetics
  • Neurology
  • Stroke Research

Background:

  • Rare or low-frequency genetic variants with high penetrance are implicated in ischemic stroke.
  • Analyzing early-onset disease and exomes can increase the likelihood of identifying rare functional variants.

Purpose of the Study:

  • To evaluate the hypothesis that exome analysis in early-onset stroke can identify rare functional variants.
  • To investigate genetic associations with ischemic stroke subtypes and older-onset disease.

Main Methods:

  • A two-stage discovery and replication design was used.
  • Exome-chip genotyping was performed on early-onset ischemic stroke cases (15-49 years) and controls.
  • Logistic regression and meta-analysis were employed for variant and gene-based association testing.

Main Results:

  • A significant association was found between NAT10 and small-vessel stroke (P=3.79x10^-6).
  • Pathway analysis revealed associations with neurotransmitter, neurodevelopmental notch-signaling, and lipid/glucose metabolism pathways.
  • Near significant associations were observed for variants in LEXM and TRAPPC11.

Conclusions:

  • Exome-based analysis in early-onset stroke is a promising strategy for identifying novel genetic risk variants.
  • This approach can uncover new genetic loci and biological pathways contributing to stroke.