PMID: 11920850Mar 29, 2002Paper

ApoE epsilon3-haplotype modulates Alzheimer beta-amyloid deposition in the brain

American Journal of Medical Genetics
L MyllykangasP J Tienari

Abstract

ApoE epsilon4 allele increases the risk of late-onset Alzheimer disease (AD) as well as the amount of beta-amyloid deposition in the brain. Because half of AD patients do not have ApoE epsilon4, it is important to search for other determinants of ApoE that modify AD risk. We tested whether the haplotype background of the most common ApoE allele, epsilon3, influences brain amyloid deposition or the risk of neuropathologically verified AD in a population-based sample of elderly Finns. To exclude the effects of ApoE protein polymorphism we focused these analyses on subjects homozygous for epsilon3. Haplotypes were defined using polymorphisms at positions - 491 and -219 of the ApoE promoter and at position +113 of intron-1. We found that epsilon3-haplotypes containing the promoter allele -219T were associated with reduced amyloid deposition and reduced risk of neuropathologically verified AD as compared to epsilon3-haplotypes containing -219G. The functional polymorphism(s) responsible for the haplotypic difference remains to be identified. These results indicate that there is significant allelic variation in the ApoE gene region, which modulates brain amyloid deposition and AD risk, independent of the ApoE protein polymorphism.

References

Jan 1, 1991·Acta Neuropathologica·H Braak, E Braak
Nov 9, 1995·The New England Journal of Medicine·T PolvikoskiK Kontula
Aug 11, 2000·Microscopy Research and Technique·M J Bullido, F Valdivieso
Sep 12, 2000·European Journal of Human Genetics : EJHG·L ZurutuzaT Frebourg
Sep 27, 2000·Journal of Neuropathology and Experimental Neurology·A M Saunders

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Citations

Jan 29, 2009·European Journal of Human Genetics : EJHG·Alessandra BizzarroCarlo Masullo
Aug 29, 2013·Brain : a Journal of Neurology·Babak HooshmandAlina Solomon
Jun 21, 2005·Journal of Neurology, Neurosurgery, and Psychiatry·J-C LambertP Amouyel
Oct 19, 2012·Neurochemical Research·Rosella Abeti, Michael R Duchen
Jul 19, 2005·Journal of the Neurological Sciences·Liisa MyllykangasPentti J Tienari
Feb 7, 2009·Journal of Neuroimmunology·Alessandro BonettiPentti J Tienari
Mar 10, 2017·Annals of Clinical and Translational Neurology·Maarit TanskanenAnders Paetau
Dec 25, 2009·Circulation. Cardiovascular Genetics·Leena E ViiriPekka J Karhunen

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