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Published on: April 23, 2021
Association between PRKCH gene polymorphisms and subcortical silent brain infarction
M Serizawa1, T Nabika, Y Ochiai
1Department of Gene Diagnostics and Therapeutics, Research Institute, International Medical Center of Japan, 1-21-1 Toyama, Shinjuku-ku, Tokyo 162-8655, Japan.
Atherosclerosis
|January 1, 2008
Summary
Genetic variants in the protein kinase C eta (PRKCH) gene are associated with silent lacunar infarction (SLI). This finding could advance understanding of stroke risk factors in aging populations.
Area of Science:
- Genetics
- Epidemiology
- Neurology
Background:
- A large-scale genetic study identified associations between single nucleotide polymorphisms (SNPs) in the PRKCH gene and cerebral infarction.
- Silent lacunar infarction (SLI) is a growing concern in aging populations, necessitating further investigation into its genetic underpinnings.
Purpose of the Study:
- To investigate the association between two specific PRKCH gene SNPs (rs3783799 and rs2230500) and silent lacunar infarction (SLI).
Main Methods:
- A case-control study design was employed, recruiting participants from a health-screening program including brain MRI.
- Two PRKCH SNPs were genotyped and analyzed for association with SLI in independent panels.
- Statistical analysis included adjustment for confounding factors like hypertension.
Main Results:
- The two tested SNPs, rs3783799 and rs2230500, were in complete linkage disequilibrium, yielding comparable association results.
- A significant association was observed between these PRKCH SNPs and SLI under a dominant model, even after adjusting for hypertension (e.g., rs2230500, P=0.0026, adjusted OR=1.27).
Conclusions:
- The study confirms a significant association between specific PRKCH gene SNPs and silent lacunar infarction.
- These findings highlight the potential role of PRKCH in SLI pathogenesis, particularly in Asian populations.
- Further replication studies in diverse Asian populations are recommended.
