RÉSUMÉ
Objective To investigate the association between RNF213 rs6565666 polymorphisms and intracranial cystic aneurysms in patients from Guangdong province. Methods Two hundred and fifty patients with intracranial cystic aneurysms, admitted to and conformed by digital substraction angiography (DSA) in our hospital from February 2016 to October 2018, were selected as experimental group; and 250 patients without intracranial aneurysms conformed by DSA, CT angiography or magnetic resonance angiography at the same time period were used as control group. The genotypes of rs6565666 locus of RNF213 gene were detected by polymerase chain reaction-ligase detection reaction (PCR-LDR). Results As compared with those in the control group, percentages of AG and AA genotypes were significantly higher and percentage of GG genotype was statistically higher at rs6565666 locus of patients from the experimental group (P<0.05). The proportion of allele A at rs6565666 locus in the experimental group was statistically higher as compared with that in the control group (P<0.05). In the experimental group, 112 patients had ruptured aneurysms and 138 patients did not have ruptured aneurysms; there was no statistically significant difference in the genotype distribution of rs6565666 between the ruptured group and the non-ruptured group (P>0.05). Conclusion RNF213 gene rs6565666 polymorphism is associated with intracranial cystic aneurysms in patients from Guangdong province.
RÉSUMÉ
Objective To explore the effect of Willis circle variation and hemodynamic forces alteration arised from vascular structural abnormity on intracranial aneurysm (IA) rupture using 3D-digital subtraction angiography (DSA) and transcranial color Doppler (TCCD) detection.Methods Two hundred and twenty-three patients with IA,admitted to and conformed by DSA in our hospital from November 2010 to November 2011,were divided into ruptured IA group (n=182) and un-ruptured IA group (n=41).The 3D-DSA was applied in all patients to carefully evaluate the aneurysm sizes,locations,and morphous features,and to confirm the presence of A1 dominance and Willis circle variation.Moreover,aneurysmal neck area,diameter of parent artery,angle between A2 segments of bilateral anterior cerebral artery,angle between aneurysmal longitudinal axis and parent artery,aortic diameter (AD) and aspect ratio (AR) were measured with assistance of 3D-DSA images.Besides,TCCD was applied to all patients,and the hemodynamic parameters were recorded to calculate wall shear stress (WSS) and mechanical stretch.The risk factors of IA rupture were analyzed by receiver operating characteristic (ROC) curve and multivariate Logistic regression with emphasis on Willis circle variation and hemodynamic forces alteration.Results Whether it was in ruptured IA group or in un-ruptured IA group,the incidence rate of variation of anterior Willis circle was higher than that of variation of posterior Willis circle.A1 dominance on the left side was the most common asymmetry.As compared with those in un-ruptured IA group,statistically elder age,smaller AD,larger angle between aneurysmal longitudinal axis and parent artery,decreased WSS and increased mechanical stretch in the ruptured IA group were noted (P＜0.05).ROC curve indicated that angle between aneurysmal longitudinal axis and parent artery,AD,WSS and mechanical stretch could be used to evaluate IA rupture (area under the curve:0.606、0.618、0.396、0.637).Age (OR=8.618,95％CI:2.866-25.917,P=0.000),hypertension (grade Ⅲ OR=16.320,95％CI:1.628-163.556,P=0.018),angle between aneurysmal longitudinal axis and parent artery (OR=3.053,95％CI:1.131-8.242,P=0.028),AD (OR=5.638,95％CI:1.507-20.251,P=0.008) and mechanical stretch (OR=4.230,95％CI:1.554-11.516,P=0.000) were risk factors of IA rupture.A1 dominance (OR=0.242,95％CI:0.074-0.785,P=0.018),small aneurysms (2-5 mm,OR=0.207,95％CI:0.054-0.788,P=0.002) and WSS (OR=0.021,95％CI:0.060-0.672,P=0.009) were identified as protective factors.Conclusions Willis circle variation exists in IA patients.Age,hypertension (grade ⅢD,angle between aneurysmal longitudinal axis and parent artery,AD and mechanical stretch are risk factors of IA rupture,while A1 dominance,small aneurysm (2-5 mm) and WSS are identified as protective factors.Accurate assessment of these factors is of great clinical significance for the prevention and treatment of IA in the future.