1. Are Genetic Variants Associated with the Location of Cerebral Arterial Lesions in Stroke Patients?
- Author
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Kim YJ, Kim BJ, Lee MH, Lee HB, Lee JS, Chang DI, Choi-Kwon S, Chun S, Lee JK, Kang DW, Kwon SU, and Kim JS
- Subjects
- Aged, Case-Control Studies, Cerebral Small Vessel Diseases diagnostic imaging, Female, Fibrillin-1 genetics, Genetic Predisposition to Disease, Glucose Transport Proteins, Facilitative genetics, Humans, Intracranial Arteriosclerosis diagnostic imaging, Male, Matrix Metalloproteinase 2 genetics, Middle Aged, Phenotype, Receptor, Transforming Growth Factor-beta Type II genetics, Risk Assessment, Risk Factors, Seoul, Stroke diagnostic imaging, Transforming Growth Factor beta1 genetics, Adenosine Triphosphatases genetics, Cerebral Small Vessel Diseases genetics, Intracranial Arteriosclerosis genetics, Polymorphism, Single Nucleotide, Stroke genetics, Ubiquitin-Protein Ligases genetics
- Abstract
Background: Genetic variants may play a role in determining the location of cerebral atherosclerosis. We aimed to investigate the association between RNF213, MMP2, and genetic polymorphisms linked to vascular tortuosity with the location of cerebral arterial atherosclerosis., Methods: A prospective case-control study was conducted on patients with ischemic stroke and age- and sex-matched stroke-free controls. The stroke patients were categorized into those with intracranial artery atherosclerosis (ICAS), extracranial artery atherosclerosis (ECAS), and small vessel occlusion (SVO). Six single nucleotide polymorphisms (SNPs) including rs2118181 (FBN1), rs2179357 (SLC2A10), rs1036095 (TGFBR2), rs243865 (MMP2), rs1800470 (TGFB1), and rs112735431 (RNF213) were analyzed with the TaqMan Genotyping Assay, and the distribution of genotypes across groups was compared., Results: None of the 6 SNPs were associated with stroke on comparing the 449 stroke patients (71 with ECAS, 169 with ICAS, and 209 with SVO) to the 447 controls. In the subgroup analysis, the adjusted odds ratios (aORs) for age and sex indicated a significant association between rs112735431 and ICAS in the allele comparison analysis and in the additive and dominant model analyses. rs112735431 was associated with anterior circulation involvement and increased burden of cerebral atherosclerosis. rs2179357 was significantly associated with ICAS in the recessive model analysis, and rs1800470 was significantly associated with ECAS in the recessive model analysis when compared to controls., Conclusion: rs112735431 was associated with ICAS and increased atherosclerosis burden in Korean stroke patients. Further studies are needed to elucidate the role of rs112735431 and to confirm the association of rs2179357 and rs1800470 with cerebral atherosclerosis., (© 2020 S. Karger AG, Basel.)
- Published
- 2020
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