title: BACE1 gene promoter single-nucleotide polymorphisms in Alzheimer's disease.
abstract: Alzheimer's disease (AD) is the most neurodegenerative disorder leading to dementia. Neuritic plaque formation in brains is a hallmark of AD pathogenesis. Amyloid beta protein (Abeta) is the central component of neuritic plaques. Processing beta-amyloid precursor protein (APP) at the beta-secretase site by the beta-site APP cleaving enzyme 1 (BACE1) is essential for generation of Abeta. Elevation of BACE1 activity and expression has been reported in AD brains. However, no mutation in the BACE1 coding sequence has been identified in AD cases. Human BACE1 expression is tightly regulated at the transcription and translation level. To determine whether there is any single-nucleotide polymorphisms in the BACE1 gene promoter region affecting BACE1 expression in AD pathogenesis, in this study, we screened 2.6 kb of the human BACE1 gene promoter region from late-onset AD patients and found that there was no significant association between single-nucleotide polymorphisms and AD cases.
authors.affiliation: Townsend Family Laboratories, Department of Psychiatry, Brain Research Center, Graduate Program in Neuroscience, The University of British Columbia, 2255 Wesbrook Mall, Vancouver, BC V6T1Z3, Canada.
authors.forename: Weihui
authors.initials: W
authors.lastname: Zhou
authors.forename: Fang
authors.initials: F
authors.lastname: Cai
authors.forename: Yu
authors.initials: Y
authors.lastname: Li
authors.forename: George S
authors.initials: GS
authors.lastname: Yang
authors.forename: Kathleen D
authors.initials: KD
authors.lastname: O'Connor
authors.forename: Robert A
authors.initials: RA
authors.lastname: Holt
authors.forename: Weihong
authors.initials: W
authors.lastname: Song
mesh_terms: D000368:Aged; D000369:Aged, 80 and over; D000544:Alzheimer Disease / Q000201:enzymology* / Q000235:genetics*; D053829:Amyloid Precursor Protein Secretases / Q000235:genetics*; D000818:Animals; D016282:Aspartic Acid Endopeptidases / Q000235:genetics*; D002460:Cell Line; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D053829:Amyloid Precursor Protein Secretases; D016282:Aspartic Acid Endopeptidases; C509280:BACE1 protein, human
references.citation: Nature. 1992 Dec 17;360(6405):672-4
references.pmid: 1465129
references.citation: Nat Med. 2004 Sep;10(9):959-65
references.pmid: 15286784
references.citation: Neuroreport. 2001 Jul 3;12(9):1799-802
references.pmid: 11435901
references.citation: Nat Neurosci. 2001 Mar;4(3):233-4
references.pmid: 11224536
references.citation: J Neurol. 2003 Aug;250(8):956-61
references.pmid: 12928915
references.citation: Neurogenetics. 2001 Oct;3(4):203-6
references.pmid: 11714100
references.citation: Proc Natl Acad Sci U S A. 2006 Dec 5;103(49):18727-32
references.pmid: 17121991
references.citation: Physiol Rev. 2001 Apr;81(2):741-66
references.pmid: 11274343
references.citation: Science. 1993 Jan 22;259(5094):514-6
references.pmid: 8424174
references.citation: Mol Cell Biol. 2006 May;26(9):3353-64
references.pmid: 16611980
references.citation: Proc Natl Acad Sci U S A. 2007 May 8;104(19):8167-72
references.pmid: 17470798
references.citation: Proc Natl Acad Sci U S A. 2004 Feb 10;101(6):1662-7
references.pmid: 14757827
references.citation: FASEB J. 2004 Oct;18(13):1571-3
references.pmid: 15289451
references.citation: Proc Natl Acad Sci U S A. 2004 Mar 2;101(9):2794-9
references.pmid: 14981268
references.citation: Nature. 1999 Dec 2;402(6761):537-40
references.pmid: 10591214
references.citation: Nature. 1999 Dec 2;402(6761):533-7
references.pmid: 10591213
references.citation: J Biol Chem. 2003 May 9;278(19):17141-9
references.pmid: 12551920
references.citation: Mol Cell Neurosci. 1999 Dec;14(6):419-27
references.pmid: 10656250
references.citation: FASEB J. 2006 Feb;20(2):285-92
references.pmid: 16449801
references.citation: J Neurosci. 2008 Jan 30;28(5):1213-23
references.pmid: 18234899
references.citation: J Biol Chem. 2004 Sep 17;279(38):39710-7
references.pmid: 15247262
references.citation: Neuroreport. 2003 Jul 1;14(9):1243-6
references.pmid: 12824768
references.citation: EMBO Rep. 2004 Jun;5(6):620-5
references.pmid: 15167888
references.citation: Neuroreport. 2005 Jun 21;16(9):1023-6
references.pmid: 15931081
references.citation: Science. 1999 Oct 22;286(5440):735-41
references.pmid: 10531052
references.citation: J Biol Chem. 2004 Mar 12;279(11):10542-50
references.pmid: 14699153
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2003 May 15;119B(1):44-7
references.pmid: 12707937
references.citation: Cell. 2004 Nov 24;119(5):591-602
references.pmid: 15550242
references.citation: J Neural Transm (Vienna). 2005 Mar;112(3):455-69
references.pmid: 15614428
references.citation: J Neurochem. 2000 Nov;75(5):2133-43
references.pmid: 11032903
references.citation: Genome Res. 1998 Mar;8(3):195-202
references.pmid: 9521923
references.citation: Proc Natl Acad Sci U S A. 2000 Feb 15;97(4):1456-60
references.pmid: 10677483
references.citation: FASEB J. 2006 Jul;20(9):1369-76
references.pmid: 16816112
references.citation: Nat Neurosci. 2001 Mar;4(3):231-2
references.pmid: 11224535
references.citation: FASEB J. 2005 May;19(7):739-49
references.pmid: 15857888
references.citation: Mol Cell Biol. 2004 Jan;24(2):865-74
references.pmid: 14701757
references.citation: Biochem Pharmacol. 2002 Feb 15;63(4):563-7
references.pmid: 11992623
references.citation: Neuron. 2007 Jun 7;54(5):721-37
references.pmid: 17553422
references.citation: Arch Neurol. 1998 Mar;55(3):294-6
references.pmid: 9520001
references.citation: Nat Med. 2003 Jan;9(1):3-4
references.pmid: 12514700
references.citation: Am J Med Genet B Neuropsychiatr Genet. 2004 Jan 1;124B(1):54-7
references.pmid: 14681914
references.citation: Nature. 2000 Jun 1;405(6786):531-2
references.pmid: 10850703
references.citation: Biochim Biophys Acta. 2004 May 6;1698(2):255-9
references.pmid: 15134659
references.citation: FASEB J. 2004 Jun;18(9):1037-9
references.pmid: 15059977
references.citation: Proc Natl Acad Sci U S A. 2001 Nov 20;98(24):13554-9
references.pmid: 11698669
references.citation: J Biol Chem. 2004 Dec 17;279(51):53205-12
references.pmid: 15485862
references.citation: Am J Pathol. 2004 Feb;164(2):719-25
references.pmid: 14742275
references.citation: Nucleic Acids Res. 2004 Mar 19;32(5):1808-17
references.pmid: 15034149
references.citation: J Biol Chem. 2003 Dec 5;278(49):48713-9
references.pmid: 14507929
references.citation: Arch Neurol. 2002 Sep;59(9):1381-9
references.pmid: 12223024
references.citation: Neurosci Lett. 2001 Nov 2;313(1-2):105-7
references.pmid: 11684351
references.citation: Clin Sci (Lond). 2003 May;104(5):493-501
references.pmid: 12513691
references.citation: Mol Cell Neurosci. 2004 Apr;25(4):642-9
references.pmid: 15080893
references.citation: Genome Res. 1998 Mar;8(3):175-85
references.pmid: 9521921
references.citation: FEBS Lett. 2000 Feb 18;468(1):59-64
references.pmid: 10683441
references.citation: J Biol Chem. 2005 May 6;280(18):17777-85
references.pmid: 15749709
references.citation: J Neuropathol Exp Neurol. 2001 Aug;60(8):759-67
references.pmid: 11487050
references.citation: Ann Neurol. 2002 Jun;51(6):783-6
references.pmid: 12112088
references.citation: Neuroreport. 2001 Mar 5;12(3):631-4
references.pmid: 11234778
references.citation: Hum Mol Genet. 2001 Jun 1;10(12):1317-24
references.pmid: 11406613