| Background:Moyamoya disease (MMD) is a rare cerebrovascular disease, often lack the common risk factors of cerebrovascular disease. The basic pathological changes include:involvement of vascular intimal thickening, in layers of elastic distortion or fracture and medial smooth muscle decreased significantly. Generally, there is no infiltration of inflammatory cells. The abnormal hyperplasia coiled vascular networks are observed in the base of the skull and leptomeninges together with the involvements vascular. Thrombosis or aneurysm can be found. The etiology and pathogenesis of the disease are still not clear. Epidemiological data show that there are significant differences in race and area. The disease is mainly concentrated in Japan, South Korea, China and other East Asian countries. The incidence of western countries is relatively lower. Japanese study showed that 12.1%-14.9% patients with moyamoya disease have a family history. In addition, offspring of patients with moyamoya disease suffering from moyamoya disease risk is higher than the general population. Identical twins show a higher incidence, which show that genetic factors in the pathogenesis of moyamoya disease play an important role. It is generally believed that the ring finger protein 213 (RNF213) genes is a candidate gene for MMD. Studies have showed that polymorphisms of rs 112735431 is associated with moyamoya disease and the hypertension of moyamoya disease. However, there is no correlation between single nucleotide polymorphisms (SNPs) in the patients with the disease in Caucasians. In the study of China, variations of rs 138130613 loci in the Han nationality MMD are observed. Although there was no significant difference between the two groups in the genotype and allele frequencies of the rs138130613 locus, it was suggested that the variation of the site may be related to the prevalence of MMD in Chinese. Studies on ICASO loci in Chinese Han population from Guangdong province showed a correlation between rs138130613 loci and non-MMD ICASO (intracranial major artery stenosis/occlusion).Objective To investigate the association between rs 138130613, rs112735431 and rs148731719 polymorphisms of ring finger protein213 (RNF213) gene and the genetic susceptibility of adult Moyamoya disease in Guangxi Zhuang population. Methods Collected 52 consecutive adult patients with MMD and 64 non-MMD ICASO from the First Affiliated Hospital of Guangxi MedicalUniversity between October 2013 and May 2015. Collected 80 healthy individuals consisted of the control group. Three groups in all of the subjects were asked and sure to been confirmed as Zhuang population in Guangxi. Polymorphisms of rs138130613, rs112735431 and rs148731719 in RNF213 gene were genotyped by PCR sequencing, and the frequencies of genotypes and alleles were compared and analyzed.Result1. The genotype (GA+AA) frequencies of rs 112735431 in RNF213 in both Zhuang nationality moyamoya disease group and Zhuang nationality non-MMD ICASO group were significantly higher than the normal control group (OR=12.29,95%CI 1.47-103.10, P=0.006; OR=8.17,95%CI 0.96-69.74, P=0.045 respectively). There was no significant difference in the genotype and allele frequencies of rs 112735431 between the Zhuang nationality MMD group and the Zhuang nationality non-MMD ICASO group (P>0.05).2. The allele and genotype frequencies of rs138130613 and rsl48731719 showed no statistically significant among Zhuang nationality moyamoya disease group, Zhuang nationality non-MMD ICASO group and normal control group (P>0.05).3. Hypertension is a risk factor for adult moyamoya disease of Zhuang population in Guangxi. (OR=2.824,95%Ci1.080-7.388, P=0.034)。Conclusions Polymorphisms of rs 112735431 in RNF213 might be a genetic marker for MMD and might be related to the formation of intracranial major artery stenosis/occlusion which absence of MMD in Guangxi Zhuang population. The relationships between polymorphism of rs138130613 and rs 148731719 in RNF213 and MMD are unclear. |
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