【摘 要】
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Background:Cerebrovascular disease (CVD) is a leading cause of morbidity and mortality worldwide.Studies have indicated that CVD is influenced by genetic and environmental factors.Cerebral autosomal d
【机 构】
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Department of Neurology,Beijing Military General Hospital,5 Dongsi Shitiao Nanmencang Street,Beijing
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Background:Cerebrovascular disease (CVD) is a leading cause of morbidity and mortality worldwide.Studies have indicated that CVD is influenced by genetic and environmental factors.Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is associated with a single gene defect.Recently,mutations in the Notch3 gene have been demonstrated to cause CADASIL.To understand the relationship between the single nucleotide polymorphisms (SNPs) in Notch3 exons 3–6 and lacunar infarction,we compared the SNPs between control subjects and those with lacunar infarction.Methods:We enrolled 135 patients:30 with no infarction (control) and 105 with lacunar infarction.Lacunar patients were divided into “pure lacunar” and “lacunar + leukoarasis” based on brain imaging (CT or MRI).The clinical history included hypertension,diabetes mellitus (DM),hyperlipidemia and heart disease.The Notch3 sequence was obtained from the NCBI.The Notch3 gene was amplified by PCR from whole blood samples and exons 3–6 were sequenced to identify the SNPs.Results:There was no significant difference in the prevalence of hypertension,DM,hyperlipidemia and heart disease between the control subjects and lacunar infarction patients.The age of individuals in the lacunar + leukoarasis group was significantly greater than that of the control and pure lacunar patients.Thirty-seven SNPs were identified in Notch3 exons 3–6;eight of which were detected at low allelic frequencies and only rs3815388 and rs1403994 exhibited slightly higher allelic frequencies.Conclusion:These data suggest that Notch3 SNPs,particularly rs1403994,are associated with lacunar infarction.
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