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Gene overview of all published AD-association studies for CTSD

Gene:

CTSD (CPSD; MGC2311)

View on PDGene

Protein:

cathepsin D (lysosomal aspartyl protease)

Chromosome:

11 (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 5 September 2010

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
Bagnoli, 2002	Italy	CL	1 (detail)	197 (42%)	M	65.7 + 8.6 (-)	71.1 + 8.5 (45-88)	126 (67%)	72.9 + 24 (26-108)	Negative
Beyer, 2005	Spain	CL	1 (detail)	206 (62%)	C	-	72.6 (48-85)	181 (60%)	69.6 (45-84)	Positive
Bhojak, 2000	USA	CL	1 (detail)	531 (65%)	M	71.8 + 7.9 (-)	76.1 + 7.1 (-)	337 (-)	74.5 + 4.3 (-)	Negative
Blomqvist, 2005	Overlaps with Emahazion, 2001	CL	1 (detail)	-	-	-	-	-	-	n.a.
Blomqvist, 2005	Sweden	CL	1 (detail)	819 (63%)	M	-	76.2 + 7.1 (-)	240 (59%)	73.2 + 9.3 (-)	Negative
Capurso, 2005	Overlaps with Capurso, 2008	CL	1 (detail)	168 (65%)	C	70.1 + 10.4 (-)	-	218 (67%)	75.5 + 8.5 (-)	n.a.
Capurso, 2008	Italy	CL	1 (detail)	242 (60%)	C	70 + 8 (-)	-	421 (53%)	70.6 + 15 (-)	Negative
Corder, 2006	USA	CL	1 (detail)	180 (-)	C	-	-	120 (-)	-	Positive
Corder, 2008	Overlaps with Blomqvist, 2005	CL	1 (detail)	938 (-)	U	-	-	397 (-)	-	n.a.
Crawford, 2000	USA	CL,CO	1 (detail)	210 (59%)	C	75.8 + 5.6 (-)	-	120 (51%)	75.7 + 6.3 (-)	Negative
Davidson, 2006	UK	CL	1 (detail)	560 (-)	M	63.6 + 5.7 (-)	-	767 (-)	-	Negative
Emahazion, 2001	Scotland I	CL	1 (detail)	121 (-)	C	-	-	152 (-)	-	Negative
Emahazion, 2001	Scotland II	CL	1 (detail)	116 (-)	U	-	-	176 (-)	-	Negative
Giedraitis, 2009	Sweden (ULSAM)	CL	2 (detail)	86 (0%)	C	80.2 (72-85)	-	404 (0%)	81.8 (80-84)	Negative
Ingegni, 2003	Italy	CL	1 (detail)	142 (67%)	C	76.3 (-)	-	120 (75%)	71.7 (-)	Negative
Koelsch, 2004	Same as Papassotiropoulos, 1999		1 (detail)	-	-	-	-	-	-	n.a.
Li, 2008	Canada	CL	1 (detail)	753 (58%)	C	71.9 + 8.5 (-)	77.8 + 8.6 (-)	736 (64%)	73.4 + 7.9 (-)	Negative
Mariani, 2006	Italy	CL	1 (detail)	100 (74%)	C	-	76.1 + 7.1 (-)	136 (74%)	72.9 + 7.3 (-)	Positive
Mateo, 2002	Spain	CL	1 (detail)	311 (67%)	C	71.6 + 8.7 (40-95)	75.3 + 8.9 (50-98)	346 (70%)	80.4 + 7.6 (63-100)	Negative
Matsui, 2001	USA	CL	1 (detail)	69 (-)	M	77.8 + 8 (-)	-	50 (-)	61.1 + 14.6 (-)	Negative
McIlroy, 1999	Ireland	CL	1 (detail)	183 (66%)	C	-	77.7 + 5.9 (-)	187 (69%)	77.1 + 6 (-)	Trend
Menzer, 2001	Europe (mixed)	CL	1 (detail)	324 (72%)	C	-	74.2 + 9.2 (-)	302 (60%)	67.8 + 12.5 (-)	Trend
Papassotiropoulos, 1999	Germany	CL	1 (detail)	102 (67%)	C	-	74.4 + 10.3 (51-101)	191 (52%)	70.6 + 11.4 (50-100)	Positive
Papassotiropoulos, 2000	Germany	CL	1 (detail)	127 (61%)	C	-	72 + 10 (-)	184 (61%)	69 + 10 (-)	Positive
Papassotiropoulos, 2000 (II)	Same as Papassotiropoulos, 1999 & 2000	CL	1 (detail)	-	-	-	-	-	-	n.a.
Papassotiropoulos, 2002	Germany	CL	1 (detail)	41 (66%)	C	-	68.7 + 7.3 (-)	24 (54%)	65.7 + 11.1 (-)	Positive
Prince, 2001	Overlaps with Blomqvist, 2005	CL	1 (detail)	-	-	-	-	-	-	n.a.
Randall, 2009	Overlaps with Corder, 2006	CL	1 (detail)	181 (71%)	C	-	-	119 (52%)	-	n.a.
Reiman, 2007	USA, Netherlands	CL	1 (detail)	861 (-)	M	-	74.9 + 6.6 (-)	550 (-)	77.4 + 7.3 (-)	Negative
Schuur, 2009	Netherlands	PO	3 (detail)	493 (74%)	C	82.8 + 6.9 (-)	76.3 (-)	5619 (58%)	68.2 (-)	Positive
Styczynska, 2003	Poland	CL	1 (detail)	100 (66%)	C	71 + 4.6 (-)	76.4 + 4.7 (-)	100 (58%)	74.2 + 6.6 (-)	Negative
Webster, 2010	Overlaps with Reiman, 2007	CL	1 (detail)	861 (-)	M	-	82.8 + 7.7 (-)	550 (-)	79.7 + 6.3 (-)	Negative
Asian
Jhoo, 2005	Korea	CL	1 (detail)	107 (65%)	C	69.9 + 9.4 (-)	72.9 + 9 (54-97)	216 (78%)	70.1 + 7.1 (52-88)	Negative
Li, 2004	China	CL,PO	1 (detail)	156 (53%)	U	69.7 + 9.2 (45-90)	74 + 9.1 (45-95)	183 (45%)	69.9 + 7.7 (48-90)	Negative
Matsui, 2001	Japan	CL	1 (detail)	254 (78%)	M	74.4 + 8.9 (-)	-	479 (46%)	74.9 + 6.1 (-)	Negative
Hispanic
Crawford, 2000	Cuba	CL,CO	1 (detail)	79 (70%)	C	73.7 + 5.6 (-)	-	112 (59%)	72.6 + 5.5 (-)	Trend
Other/Mixed
Bertram, 2001	USA	CL	1 (detail)	200 (-)	M	70.8 + 9.3 (-)	-	182 (-)	66.5 + 11.5 (-)	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
Bertram, 2000	Overlaps with Schjeide, 2009	1 (detail)		-	-	-	-	-	-	n.a.
Bertram, 2001	Overlaps with Schjeide, 2009	1 (detail)		496 (-)	M	69.8 + 8.1 (-)	-	174 (-)	-	n.a.
Schjeide, 2009	USA (CAG)	1 (detail)	217	222 (59%)	M	69.2 + 9 (50-89)	-	267 (63%)	72.9 + 8.8 (49-92)	Negative
Schjeide, 2009	USA (NCRAD)	1 (detail)	340	741 (74%)	M	71.3 + 7.6 (50-98)	-	300 (55%)	71 + 8.4 (39-93)	Positive
Schjeide, 2009	USA (NIA)	1 (detail)	351	803 (64%)	M	74.1 + 7.1 (52-98)	-	290 (59%)	73.3 + 9.5 (36-94)	Negative
Schjeide, 2009	USA (NIMH)	1 (detail)	436	995 (74%)	M	72.4 + 7.7 (50-97)	-	411 (58%)	70 + 10.7 (31-93)	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.

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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AlzGene Stats

Studies: 1360
Genes: 664
Polymorphisms: 2861
Meta-analyses: 303

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The PDGene database is supported by a grant from The Michael J. Fox Foundation in partnership with the Alzheimer Research Forum.

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An up-to-date collection of all published genetic association studies.