AlzGene

AlzGene - Gene overview of all published AD-association studies for BACE2

Gene:

BACE2 (ASP1; BAE2; DRAP; AEPLC; ALP56; ASP21; CDA13; CEAP1)

Protein:

beta-site APP-cleaving enzyme 2 (memapsin-1; beta secretase 2; aspartyl protease 1; 56 kDa aspartic-like protease; Down syndrome region aspartic protease; transmembrane aspartic proteinase Asp1; membrane-associated aspartic protease 1; beta-site amyloid beta A4 precursor protein-cleaving enzyme 2)

Chromosome:

21 (View: 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 X Y MT)

Status:

Updated 18 April 2011

1. Case-Control Studies (by ethnic group)
				AD Cases				Normal Controls
Study	Population	Source	# Polys	# Subjects (% women)	DX	Onset Age (range)	Age (range)	# Subjects (% women)	Age (range)	Result	Comment
Caucasian
Giedraitis, 2009	Sweden (ULSAM)	CL	1 (detail)	86 (0%)	C	80.2 (72-85)	-	404 (0%)	81.8 (80-84)	Negative
Gold, 2003	Switzerland	CO	2 (detail)	96 (55%)	C	-	79.9 + 9.3 (-)	170 (52%)	74.7 + 7.4 (-)	Negative
Li, 2008	Canada	CL	1 (detail)	753 (58%)	C	71.9 + 8.5 (-)	77.8 + 8.6 (-)	736 (64%)	73.4 + 7.9 (-)	Negative
Myllykangas, 2005	Finland	CO	4 (detail)	100 (84%)	N	86.1 (-)	92.3 (-)	48 (81%)	91.7 (-)	Positive
Nowotny, 2001	USA	CL	1 (detail)	262 (49%)	C	70 + 9.1 (-)	-	274 (59%)	74.5 + 9 (-)	Negative
Reiman, 2007	USA, Netherlands	CL	1 (detail)	861 (-)	M	-	74.9 + 6.6 (-)	550 (-)	77.4 + 7.3 (-)	Negative
Asian
Yu, 2008	China	CL	3 (detail)	359 (50%)	C	69.8 + 7.3 (-)	74 + 10.1 (-)	334 (56%)	70 + 7.3 (-)	Negative

Contact us if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

2. Family-Based Studies (by ethnic group)
				Affecteds				Unaffecteds
Study	Population	# Polys	# Families	# Subjects (% women)	DX	Onset Age (range)	Age (range)	# Subjects (% women)	Age (range)	Result	Comment
Other/Mixed
Myllykangas, 2005	USA (NIA, NIMH)	4 (detail)	483	1072 (73%)	M	73.3 (-)	81.5 (-)	300 (59%)	74.8 (-)	Positive

Contact us if you are an author of an association study regarding this gene and do not find your study in this table or find errors in the representation of your study details.

Source:  Source of case population -> “CL” (clinic-based), “PO” (population-based), or “CO” (community-based).
# Polys:  Number of polymorphisms tested per gene and per sample.
Onset Age and Age:  Mean or median age at onset or examination, respectively.
DX:  Criteria used to determine AD diagnosis -> "C" (clinical AD diagnosis), "N" (neuropathological AD diagnosis), "M" (mixed, i.e. AD sample contains both clinical and neuropathological cases), "U" (unknown).
Result:  Overall conclusion reached by authors of the original publication (“positive” usually indicates significant (P<0.05) association in at least one of the performed analyses, and “negative” indicates no evidence for significant association, while “trend” indicates results in between); results obtained in duplicate or largely overlapping samples are listed as "n.a.".
(-) :  Either no data provided or in case of overlap, data included in original study.

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