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Association between the rs112735431 polymorphism of the RNF213 gene and moyamoya disease: A case-control study and
Yanlan Huang1, Daobin Cheng1, Jiede Zhang2
1Department of Neurology, the First Affiliated Hospital of Guangxi Medical University, 22 Shuangyong Road, Nanning 530021, Guangxi, China.
Abstract:
Ring finger protein 213 (RNF213) gene polymorphisms are thought to be significant in the etiology and pathogenesis of moyamoya disease (MMD). Due to the rarity of MMD patients, their ethnic diversity, and the use of varying methodologies, studies of the association between these polymorphisms and MMD have not been repeatable. This lack of reproducibility affects the strength of the conclusions drawn from their results. We conducted the present case-control study and meta-analysis to provide more precise estimates of the association between the rs112735431 (c.14576G>A) polymorphism and the risk of MMD. A total of 81 MMD patients and 100 healthy controls were enrolled in our case-control study. The RNF213 rs112735431 (c.14576G>A) polymorphism was genotyped using Sanger sequencing after amplification with polymerase chain reaction (PCR). The genetic algorithm (GA) genotype and A allele frequencies of RNF213 rs112735431 (c.14576G>A) (odds ratio, OR=7.10, 95% confidence interval, CI=1.51-33.43, p=0.006; OR=9.37, 95% CI=2.10-41.84, p<0.001, respectively) were significantly higher in the MMD group than those in the control group. In our meta-analysis, we assessed a total of eight case-control studies, including 985 patients and 2335 controls. Pooled ORs indicated a significant association between the presence of the rs112735431 (c.14576G>A) polymorphism and MMD risk (dominant model: OR=74.55, 95% CI=35.86-154.98, p<0.00001). Subgroup analysis based on country and sensitivity analysis verified these results. Our case-control study and meta-analysis both provide evidence of an association between the rs112735431(c.14576G>A) polymorphism in the RNF213 gene and MMD risk.
Insights
This study found a strong link between the RNF213 gene rs112735431 polymorphism and moyamoya disease (MMD) risk. The findings from both a case-control study and meta-analysis confirm this significant association.
Area of Science:
- Genetics
- Neurology
- Epidemiology
Background:
- Moyamoya disease (MMD) is a rare cerebrovascular disorder.
- Ring finger protein 213 (RNF213) gene polymorphisms are implicated in MMD etiology.
- Previous studies on RNF213 polymorphisms and MMD risk lack reproducibility due to patient rarity, ethnic diversity, and varied methodologies.
Purpose of the Study:
- To precisely estimate the association between the RNF213 rs112735431 (c.14576G>A) polymorphism and moyamoya disease risk.
- To address the lack of reproducibility in prior research through a combined case-control study and meta-analysis.
Main Methods:
- A case-control study involving 81 MMD patients and 100 healthy controls.
- RNF213 rs112735431 polymorphism genotyping using Sanger sequencing after PCR amplification.
- A meta-analysis of eight case-control studies, including a total of 985 MMD patients and 2335 controls.
Main Results:
- The RNF213 rs112735431 (c.14576G>A) polymorphism showed significantly higher genotype and allele frequencies in MMD patients compared to controls (OR=7.10, p=0.006; OR=9.37, p<0.001).
- The meta-analysis revealed a significant association between the rs112735431 polymorphism and MMD risk (dominant model: OR=74.55, p<0.00001).
- Subgroup and sensitivity analyses confirmed the robustness of these findings.
Conclusions:
- Both the case-control study and meta-analysis provide strong evidence for an association between the RNF213 rs112735431 (c.14576G>A) polymorphism and moyamoya disease risk.
- This polymorphism is a significant genetic factor in the pathogenesis of MMD.
- Further research can build upon these reproducible findings to understand MMD etiology better.
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