Genetic Association Analysis Between RNF213 Common Variants and Symptomatic Intracranial Atherosclerotic Stenosis in a Chinese Population

Abstract Background: RNF213 is the gene involved in symptomatic intracranial atherosclerotic stenosis (sICAS). The rare variants of this gene have a significant association with the clinical phenotype of the disease in the East Asian populations. However, the association between the common variants of RNF213 and sICAS has remained unclear. This study investigated the possible association between the common variants of RNF213 and sICAS in the Chinese population. Result: A total of 39 common variants of the RNF213 gene were detected. The chi-squared test revealed two sites (rs8082521 and rs55996424) at which the genotype frequency and the allele frequency were significantly different between the sICAS group and the healthy control group (P-value < 0.05). The haplotype analysis demonstrated that rs55996424 does not have haploids with the other nine SNPs, including rs8082521. Conclusion: The T allele of the RNF213 common mutation rs55996424 increases the risk of sICAS. Compared to females, males are more likely to carry the pathogenic allele.