AlzGene - Gene overview of all published AD-association studies for CTSD
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 Gene: CTSD  (CPSD; MGC2311)  Entrez Gene    View on PDGene
 Protein: cathepsin D  (lysosomal aspartyl protease)  ProteinLink
 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 18 April 2011
Meta-Analysis
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%)
M65.7 + 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%)
M71.8 + 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%)
C70.1 + 10.4
(-)
-218
(67%)
75.5 + 8.5
(-)
n.a.
Capurso, 2008
Italy CL  1  (detail)  242
(60%)
C70 + 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%)
C75.8 + 5.6
(-)
-120
(51%)
75.7 + 6.3
(-)
Negative
Davidson, 2006
UK CL  1  (detail)  560
(-)
M63.6 + 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%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Negative
Ingegni, 2003
Italy CL  1  (detail)  142
(67%)
C76.3
(-)
-120
(75%)
71.7
(-)
Negative
Koelsch, 2004
Same as Papassotiropoulos, 1999    1  (detail)  ------n.a.
Li, 2008
Canada CL  1  (detail)  753
(58%)
C71.9 + 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%)
C71.6 + 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
(-)
M77.8 + 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%)
C82.8 + 6.9
(-)
76.3
(-)
5619
(58%)
68.2
(-)
Positive
Styczynska, 2003
Poland CL  1  (detail)  100
(66%)
C71 + 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%)
C69.9 + 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%)
U69.7 + 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%)
M74.4 + 8.9
(-)
-479
(46%)
74.9 + 6.1
(-)
Negative
 Hispanic
Crawford, 2000
Cuba CL,CO  1  (detail)  79
(70%)
C73.7 + 5.6
(-)
-112
(59%)
72.6 + 5.5
(-)
Trend
 Other/Mixed
Bertram, 2001
USA CL  1  (detail)  200
(-)
M70.8 + 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
(-)
M69.8 + 8.1
(-)
-174
(-)
-n.a.
Schjeide, 2009
USA (CAG)  1  (detail)  217222
(59%)
M69.2 + 9
(50-89)
-267
(63%)
72.9 + 8.8
(49-92)
Negative
Schjeide, 2009
USA (NCRAD)  1  (detail)  340741
(74%)
M71.3 + 7.6
(50-98)
-300
(55%)
71 + 8.4
(39-93)
Positive
Schjeide, 2009
USA (NIA)  1  (detail)  351803
(64%)
M74.1 + 7.1
(52-98)
-290
(59%)
73.3 + 9.5
(36-94)
Negative
Schjeide, 2009
USA (NIMH)  1  (detail)  436995
(74%)
M72.4 + 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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Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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