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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
E-selectin genetic variation as a susceptibility factor for ischemic stroke.
Mehran Haidari1, Mehrdad Hajilooi, Ali Reza Rafiei
1University of Texas Health Science Center at Houston and Atherosclerosis Research Laboratory, Texas Heart Institute, Houston, TX 77030, USA. mehran.haidari@uth.tmc.edu
Cerebrovascular Diseases (Basel, Switzerland)
|May 8, 2009
Summary
Genetic variations in the E-selectin gene, specifically S128R and L554F polymorphisms, are linked to an increased risk of ischemic stroke. These E-selectin gene variants represent significant susceptibility factors for stroke development.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Cardiovascular Research
Background:
- E-selectin gene polymorphism is associated with atherosclerosis.
- The role of specific E-selectin allelic variants in ischemic stroke pathogenesis requires further investigation.
Purpose of the Study:
- To investigate the association between E-selectin S128R and L554F gene polymorphisms and ischemic stroke risk.
- To determine if these genetic variations are independent risk factors for cerebrovascular events.
Main Methods:
- A case-control study involving 359 ischemic stroke cases and 353 controls.
- Genotyping of E-selectin S128R and L554F polymorphisms using polymerase chain reaction (PCR).
- Statistical analysis including multivariable logistic regression adjusted for vascular risk factors.
Main Results:
- The minor alleles (R for S128R, F for L554F) and their heterozygous genotypes were significantly more frequent in ischemic stroke patients.
- Alleles R (S128R) and F (L554F) were identified as independent risk factors for ischemic stroke.
- Combined minor alleles of both E-selectin genes showed the strongest association with ischemic stroke susceptibility (adjusted OR: 5.89).
Conclusions:
- E-selectin S128R and L554F polymorphisms are associated with an increased susceptibility to ischemic stroke.
- These genetic variants may serve as important biomarkers for predicting ischemic stroke risk.
- Targeting E-selectin pathways could offer novel therapeutic strategies for stroke prevention.
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