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Journal of the Korean Neurological Association 2000;18(5): 568-574.
알쯔하이머병의 진단 및 감별진단에서의 아포지단백 E 유전자형검사의 적용
방오영, 곽용태*
아주대학교 의과대학 신경과학교실,용인 효자병원 신경과*
Apolipoprotein E Genotyping in the Diagnosis and Differential Diagnosis of Alzheimer’s Disease
Oh-Young Bang, M.D., Yong-Tae Kwak, M.D.*
Department of Neurology, College of Medicine, Ajou University, Suwon, Korea Department of Neurology, Yongin Hyoja Geriatric Hospital, Yongin, Korea*
Abstract
Background : There is a growing interest in the use of genetic markers in predicting the various types of dementia such as Alzheimer’s disease (AD) and vascular dementia (VD). It is important to differentiate AD from other causes of dementia because the early diagnosis of AD or VD could lead to early therapeutic intervention. This study is to confirm the association of the apolipoprotein E (Apo E) epsilon 4 allele with AD and, to confirm the differential diagnostic val-ues of Apo E4 in the various causes of dementia. Methods : One hundred seventy-seven patients participated in the study. Fifty-one had a diagnosis of AD, 68 with VD, 18 with mixed dementia, 17 with other dementia, and 23 controls with no diagnoses of dementia. Patients with AD and VD met the criteria of NINCDS-ADRDA and NINDS-AIREN respectively. The genomic DNA was isolated from whole blood and the Apo E allele was determined by polymerase chain reactions. R e s u l t s : The Apo E4 allele frequency in the AD group was 21.6% and was significantly different (p<0.05) from those of non-demented controls (4.3%) or VD (8.1%). The age of onset of AD was delayed by the pres-ence of the Apo E2 allele and by the absence of Apo E4 allele, although was not statistically significant. The severities of dementia assessed by MMSE were not different among groups with different Apo E genotypes, implying that factors other than Apo E might be involved in the progression of AD. Conclusions : The Apo E genotypes can be a valuable genetic marker for predicting the risk for AD in Korea and also for differentiating AD from VD cases. J Korean Neurol Assoc 18(5):568~574, 2000 Key Words : Dementia, Alzheimer disease, Apolipoproteins E