| Polymorphism Study of Susceptibility Genes Related to Sporadic Alzheimer's Disease |
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Young Sook Choi, Kwang Soo Lee, Yong Gyu Park, Sang Ho Kim |
1Department of Pathology, The Catholic University of Korea, College of Medicine, Seoul, Korea. complt@catholic.ac.kr
2Department of Neurology, The Catholic University of Korea, College of Medicine, Seoul, Korea.
3Department of Biostatistics, The Catholic University of Korea, College of Medicine, Seoul, Korea. |
| 산발형 알쯔하이머병에서 감수성 유전자들의 다형성 연구 |
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| Abstract |
Background
We investigated whether any single nucleotide polymorphism of the 7 candidate susceptibility genes is associated with sporadic Alzheimer's disease (AD).
Methods
Genomic DNA from brain tissues of registered cases of autopsy-confirmed, sporadic AD (n=45) and from non-demented cerebral infarct with atherosclerosis (A/S, n=36) as a control group were isolated and single strand conformational polymorphism was done.
Results
287 base pair insertion/deletion (I/D) of angiotensin converting enzyme (ACE) was most frequent genotype in AD and infarct- A/S. Among (GT)18, (GT)19 and (GT)20 polymorphism, (GT)18 polymorphism in the promoter region of neprilysin (NEP) was most com- monly found in AD and infarct-A/S. CT genotype of NEP*159C>T in 3'-untranslated region was most frequent genotype in AD and infarct-A/S. ACE genotype and allele both were associated with the frequency of NEP (GT)n genotype (p<0.05) in AD. Polymorphisms of cathepsin D, nitric oxide synthase 3, low density lipoprotein receptor related-protein, G protein beta3-subunit and LBP-1c/CP2/LSF transcriptional factor were not related to AD.
Conclusion
Coexistence of ACE I/D and NEP (GT)n polymorphism appeared to be a genetic risk factor for sporadic AD in comparison with cerebral infarct-atherosclerosis. |
| Key Words:
Alzheimer's disease, Polymorphism, Angiotensin converting enzyme, Neprilysin, Cathepsin D |
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