Clinical Correlation of Magnetic Resonance Imaging Features of Cerebral Small Vessel Disease.

OBJECTIVE: We have discussed the clinical features and neuroimaging findings and investigated the correlations between the clinical characteristics and different neuroradiologic phenotypes of cerebral small vessel disease (CSVD). METHODS: A total of 1106 patients with a diagnosis of CSVD were enrolled. The demographic data, medical history, laboratory test results, and neuroimaging findings were retrieved for analysis. The differences in clinical parameters between patient groups were examined. The relationships between the clinical parameters and neuroradiologic phenotypes (i.e., white matter lesions [WMLs] and enlarged perivascular spaces) were assessed. The magnetic resonance imaging features were clustered using the fast clustering algorithm. RESULTS: Approximately one third of our patients presented with a lacune, which was associated with atrial fibrillation (P = 0.029), lacunar syndrome (P < 0.001), periventricular WMLs (P = 0.001), cerebral WMLs (P = 0.021), basal ganglia perivascular space grade (P < 0.001) and severity (P = 0.001), and semiovale perivascular space grade (P = 0.010) and severity (P = 0.002). Hypertension was associated with periventricular WMLs (P = 0.048), centrum semiovale WMLs (P = 0.026), and basal ganglia perivascular space grade (P < 0.001) and severity (P < 0.001). A novel clustering algorithm was derived to stratify our cohort into 3 different groups according to the differing severity of the cerebral WMLs and perivascular space enlargement. CONCLUSION: The present study has provided a comprehensive analysis of the clinical correlation of characteristics and neuroradiologic phenotypes in patients with CSVD. The insights from these findings could be used to refine the management strategy for patients with CSVD.

Genetic variants on chromosome 9p21 and ischemic stroke in Chinese.

In a hospital based case control study, we investigated the association of cyclin-dependent kinase inhibitor 2A (CDKN2A) gene, cyclin-dependent kinase inhibitor 2B (CDKN2B) gene, and two genetic variants (rs10757274 and rs2383206) on chromosome region 9p21 with ischemic stroke in Chinese Hans. Two polymorphisms in the CDKN2A gene (rs3088440 and rs3731245) and two polymorphisms in the CDKN2B gene (rs3217992 and rs1063192) were selected by using a strategy of tagging single nucleotide polymorphisms (tSNP). We observed significant association of rs2383206 with ischemic stroke. Subjects with the GG/GA genotype of rs2383206 had a 1.51-fold (95%CI 1.11-2.05, p=0.009) increased risk of stroke, compared with those with the AA genotype. In addition, the GG/GA genotypes of rs2383206 and rs3731245 was associated with an increased risk of large vessel subtype and small vessel subtype of ischemic stroke, respectively, with ORs of 2.09 (95%CI 1.30-3.37, p=0.002) and 1.63 (95%CI 1.06-2.51, p=0.026), respectively. In gene-environmental interaction analysis, elevation of ischemic stroke risk was observed among AG+GG genotype carriers who consume alcohol, smoke cigarette, and have hypertension, with adjusted combined ORs of 2.86(1.51-5.41), 4.30(2.38-7.77), and 13.97(7.78-25.07), respectively, compared with low-risk individuals for rs2383206 (GG carriers who did not consume alcohol, smoke cigarette, and without hypertension). We provide evidence that genetic variants on chromosome region 9p21 may implicated in the prevalence of ischemic stroke in Chinese.

MTAP gene is associated with ischemic stroke in Chinese Hans.

Common pathogenic mechanisms may be involved in the prevalence of ischemic stroke and coronary heart disease. Recently, genome-wide association (GWA) studies identified a chromosome region (9p21) that confers the risk of coronary heart disease. In a hospital-based case-control study conducted in Chinese Hans, we tested the hypothesis that the methylthioadenosine phosphorylase (MTAP) gene on chromosome region 9p21 is involved in the aetiology of ischemic stroke using a tagging single nucleotide polymorphism (tSNP) strategy. We observed significant association of rs10118757 in the MTAP gene with ischemic stroke. The G allele of rs10118757 was associated with an increased risk of stroke, with a per-allele OR of 1.31(95% CI, 1.04-1.65, p=0.025). The association remains after controlling for confounding factors including age, gender, body mass index, smoking, alcohol drinking, hypertension, diabetes, and hyperlipidaemia (OR=1.38, 95 CI, 1.02-1.88, p=0.039). In addition, the GA+GG genotype of rs10118757 was associated with the increased risk of an undetermined subtype of ischemic stroke (OR=2.14, 95 CI, 1.35-3.38, p=0.001). Further, we also observed the combined effects of rs10118757 with alcohol drinking and hypertension, which increased the risk of ischemic stroke. Our observations support the hypothesis that the MTAP gene may be involved in the prevalence of ischemic stroke in Chinese Hans.