Screening the single nucleotide polymorphisms in patients with internal carotid artery stenosis by oligonucleotide-based custom DNA array.

UNLABELLED: Early screening of individuals considered to be at risk for severe internal carotid artery (ICA) stenosis is an important strategy for preventing ischemic cerebral stroke. The purpose of this study is to screening candidate single nucleotide polymorphisms (SNPs) associated with severe ICA stenosis using a newly developed oligonucleotide-based custom DNA array. The subjects consisted of 47 controls and 46 patients with severe ICA stenosis (>/=70%) who underwent carotid endarterectomy (CEA). Subjects gave informed consent and we obtained samples of blood and genomic DNA. We studied 8 candidate genes: renin-angiotensin system [angiotensinogen (AGT), angiotensin II receptor type 1 (AGTR1), nitric oxide synthase 3 (NOS3)]; growth factor [hepatocyte growth factor (HGF)]; transgelin (SM22); cytokine [chemokine receptor 2 (CCR2)]; coagulation-fibrinolysis system [5,10-methylenetetrahydrofolate reductase (MTHFR)]; and plasminogen activator inhibitor 1 (PAI-1). Genotyping of candidate SNPs was done with a line probe assay (LiPA) based on an oligonucleotide-based DNA array. RESULTS: The allele frequency of PAI-1 -1965 delG (odds ratio (OR), 0.3; 95% confidence interval (CI), 0.2-0.6) and MTHFR (OR 1.3, 95% CI, 1.0-1.5) were significantly different between controls and cases with ICA stenosis by Fisher's exact test. Multiple logistic analysis revealed that diabetes mellitus (DM), SNPs in PAI-1 -1965 delG and MTHFR were an independent risk for ICA stenosis. In conclusion, genetic factors of coagulation-fibrinolysis as well as diabetes mellitus (DM) were relevant in ICA stenosis.

[A case of bacterial aneurysm that occurred in the external carotid artery].

Occurrence of a mycotic aneurysm extracranially is extremely rare. We report our experience with a case of mycotic aneurysm that occurred in the external carotid artery accompanying infectious endocarditis. The case was a 33-year-old male. He visited our hospital with principal complaints of weakness in the lower left side and visual difficulty. Multiple cerebral infarctions were noted in a head MRI. In addition, vegetation was noted on the mitral valve in an echocardiogram, and the patient was admitted to cardiology for infectious endocarditis. Aneurysms were noted in the external carotid artery and the posterior cerebral artery in a cerebral angiogram performed before valve replacement. After administration of antibiotics for 5 weeks, radical surgery was performed for the external carotid artery aneurysm that had remained unchanged. With a satisfactory postoperative course, the patient was able to walk independently after mitral valve replacement and was discharged. We have scoured the literature with regard to mycotic aneurysm occurring extracranially and have studied this case because of this characteristic. When performing cerebral angiography to search for a mycotic aneurysm, the area outside the cranium as well as inside must be closely examined.