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Association of the miR-146aC>G, miR-196a2C>T, and miR-499A>G polymorphisms with moyamoya disease in the Korean
Young Seok Park1, Young Joo Jeon, Bo Eun Lee
1Department of Neurosurgery, CHA Bundang Medical Center, CHA University, School of Medicine, Seongnam, South Korea.
Abstract:
Recent evidence has demonstrated associations between the single nucleotide polymorphism (SNP) rs11614913 in miR-196a2C>T and various pathologies. A main target of miRNA-196a is annexin A1 (lipocortin1, ANXA1), which is associated with increased multiple malignant tumors in brain models of ischemia and reperfusion injury. To determine the effects of miRNA SNPs in moyamoya disease, we recruited 107 patients with moyamoya disease and 240 healthy controls from a Korean study population and determined the genotype of each participant from whole blood samples. We compared the patient and the control genotypes and allele frequencies of rs2910164, rs11614913, and rs3746444 and investigated the association of the three SNPs with age and clinical characteristics, such as cerebral hemorrhage or infarction. rs11614913 in miR-196a2C>T was significantly associated with moyamoya disease. The association of this SNP with adult age and cerebral infarction was statistically significant compared to the control group, but the association with hemorrhagic moyamoya disease was not significant. The CT+CC genotype of miR-196a2 was represented at an increased frequency among patients with moyamoya disease. However, the distribution of miR-146aC>G and miR-499A>G genotypes was not statistically different between participants who were healthy and those with moyamoya disease. Thus, the SNP rs11614913 is significantly associated with moyamoya disease, as well as cerebral infarction and adult age in patients with moyamoya disease. This study demonstrates a higher frequency of the CT+CC genotype of the SNP rs11614913 in miR-196a2C>T, which suggests that miR-196a2 may play a role in the pathogenesis of moyamoya disease.
Insights
The single nucleotide polymorphism (SNP) rs11614913 in miR-196a2 is linked to moyamoya disease and cerebral infarction. This finding suggests miR-196a2 plays a role in the disease
Area of Science:
- Genetics
- Neurology
- Molecular Biology
Background:
- Single nucleotide polymorphisms (SNPs) in microRNAs (miRNAs) are associated with various diseases.
- Annexin A1 (ANXA1), a target of miRNA-196a, is implicated in brain injury and tumor development.
- Moyamoya disease is a cerebrovascular disorder with potential genetic underpinnings.
Purpose of the Study:
- To investigate the association between specific miRNA SNPs and moyamoya disease in a Korean population.
- To determine if rs11614913 in miR-196a2 is associated with moyamoya disease and its clinical characteristics.
- To explore the role of miRNA genetic variations in the pathogenesis of moyamoya disease.
Main Methods:
- Genotyping of 107 moyamoya disease patients and 240 healthy controls for SNPs rs2910164, rs11614913, and rs3746444 using whole blood samples.
- Comparison of genotype and allele frequencies between patients and controls.
- Statistical analysis to assess the association of SNPs with moyamoya disease, age, and clinical features like cerebral hemorrhage or infarction.
Main Results:
- The SNP rs11614913 in miR-196a2C>T was significantly associated with moyamoya disease.
- A statistically significant association was found between rs11614913 and adult age and cerebral infarction in moyamoya patients.
- The CT+CC genotype of miR-196a2 was more frequent in moyamoya disease patients compared to controls.
Conclusions:
- The SNP rs11614913 is significantly associated with the pathogenesis of moyamoya disease.
- miR-196a2 genetic variations, specifically the rs11614913 polymorphism, may contribute to the development of cerebral infarction in moyamoya disease.
- Further research into miR-196a2's role could offer insights into moyamoya disease mechanisms and potential therapeutic targets.
