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Association of PRKCH gene with lacunar infarction in a local Chinese Han population
Hong Cheng1, Feng Wang, Xinsheng Ding
1Department of Neurology, The First Affiliated Hospital of Nanjing Medical University, No. 300, Guangzhou Road, Nanjing, Jiangsu Province 210029, PR China.
Insights
Genetic variants in the PRKCH gene are not associated with lacunar infarction in the Chinese Han population. This study suggests population-specific genetic factors influence lacunar infarction risk.
Area of Science:
- Genetics
- Neurology
- Cardiovascular Disease
Background:
- Previous studies identified the PRKCH gene as a susceptibility gene for lacunar infarction in Japanese populations.
- Lacunar infarction is a common type of stroke with significant heritability.
- Understanding the genetic basis of lacunar infarction is crucial for developing targeted prevention strategies.
Purpose of the Study:
- To investigate the association between PRKCH gene polymorphisms and lacunar infarction in a Chinese Han population.
- To determine if specific PRKCH gene variants contribute to lacunar infarction risk in this ethnic group.
- To compare genetic findings with those from Japanese populations.
Main Methods:
- Case-control study design involving 280 lacunar infarction patients and 306 controls.
- Genotyping of two PRKCH single nucleotide polymorphisms (SNPs): rs3783799 and rs2230500.
- Ligase detection reaction (LDR) and multiplex polymerase chain reaction (PCR) for SNP analysis.
- Linkage disequilibrium (LD) and haplotype analyses were performed.
Main Results:
- No significant association was found between the studied PRKCH gene polymorphisms (rs3783799 and rs2230500) and lacunar infarction.
- Haplotype analysis did not reveal any significant differences between cases and controls.
- Allele and genotype frequencies of PRKCH differed notably from those observed in Japanese populations.
Conclusions:
- Variants in the PRKCH gene are unlikely to be risk factors for lacunar infarction in the Chinese Han population.
- Observed population differences in allele frequencies, haplotype patterns, and LD structure may explain the contrasting findings between ethnic groups.
- Further research is needed to identify genetic determinants of lacunar infarction specific to different populations.
Abstract:
Recent evidence indicated that the PRKCH gene was a susceptibility gene for lacunar infarction in a Japanese population. The aim of the present study was to explore the association of the gene with lacunar infarction in a population of Chinese Han ancestry. A total of 280 consecutive lacunar infarction patients and 306 unrelated population-based controls that had been matched for age and sex were examined using a case-control design. Two single nucleotide polymorphisms (SNPs) of PRKCH gene (rs3783799 and rs2230500) were genotyped with ligase detection reaction (LDR) and multiplex polymerase chain reaction (PCR). Linkage disequilibrium (LD) and haplotype analysis were also investigated between these two groups. Overall alleles and genotype frequencies were similar between cases and controls. No significant association was detected with the gene polymorphisms mentioned above and lacunar infarction; no significant difference was found with haplotype analysis between these two groups. None of the two SNPs showed significant association with lacunar infarction in the whole subjects before and after adjustment for conventional stroke risk factors (hypertension, diabetes mellitus, and hypercholesterolemia). The frequencies of PRKCH differed largely from those in the Japanese population. The present study suggests that variants in the PRKCH gene are not the risk factors for lacunar infarction in individuals from a small population of Chinese Han ancestry. Population differences in alleles and haplotype frequencies as well as LD structure may contribute to the observed differences between populations.
