AlzGene - Gene overview of all published AD-association studies for BCHE
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 Gene: BCHE  (CHE1; E1)  Entrez Gene    View on PDGene
 Protein: butyrylcholinesterase   ProteinLink
 Chromosome: 3   (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 29 January 2010
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
Alvarez-Arcaya, 2000
Spain CL  1  (detail)  249
(68%)
C71.5 + 9.1
(40-95)
75.3 + 9.3
(50-98)
250
(75%)
79.9 + 7.9
(63-98)
Positive
Beyer, 2005
Spain CL  1  (detail)  206
(62%)
C-72.6
(48-85)
181
(60%)
69.6
(45-84)
Positive
Bizzarro, 2010
Italy CL  1  (detail)  167
(62%)
C-73.3 + 8.1
(-)
129
(52%)
75.3 + 7.7
(-)
Positive
Blomqvist, 2005
Overlaps with
Emahazion, 2001
CL  1  (detail)  ------n.a.
Blomqvist, 2005
Overlaps with
Prince, 2001
CL  1  (detail)  ------n.a.
Combarros, 2005
Overlaps with
Alvarez-Arcaya, 2000
CL  1  (detail)  -C----n.a.
Combarros, 2007
Overlaps with
Alvarez-Arcaya, 2000
CL  1  (detail)  183
(71%)
C71.6 + 8.9
(48-93)
74.2 + 8.9
(50-97)
169
(74%)
79.7 + 7.6
(66-98)
n.a.
Cook, 2005
UK CL  3  (detail)  215
(-)
N--320
(-)
-Negative
Corder, 2006
Overlaps with
Lehmann, 1997
CL  1  (detail)  315
(-)
M--260
(-)
-n.a.
Corder, 2008
Overlaps with
Blomqvist, 2005
CL  1  (detail)  938
(-)
U--397
(-)
-n.a.
Deniz-Naranjo, 2007
Spain CL  1  (detail)  282
(69%)
C---312 + 120
(-)
Positive 
Emahazion, 2001
Scotland CL  1  (detail)  121
(-)
C--152
(-)
-Negative
Giedraitis, 2009
Sweden (ULSAM) CL  1  (detail)  86
(0%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Negative
Grubber, 1999
USA CL  1  (detail)  245
(58%)
C67.9 + 8.3
(40-85)
72.7 + 8
(42-93)
241
(52%)
69.7 + 7.3
(37-86)
Negative
Helbecque, 1998
Europe (mixed) CL  1  (detail)  336
(60%)
C66.5 + 8.1
(-)
69.8 + 7.9
(-)
344
(49%)
72.2 + 13.8
(-)
Negative
Hiltunen, 1998
Finland CL  1  (detail)  78
(74%)
M73 + 5
(-)
-97
(66%)
72 + 4
(-)
Negative
Kehoe, 1998
UK CL  1  (detail)  181
(60%)
M70 + 9
(-)
-71
(52%)
73.4 + 6.2
(-)
Negative
Laws, 1999
Australia CL,CO  1  (detail)  237
(-)
C--347
(-)
-Negative
Lehmann, 1997
UK CL  1  (detail)  149
(58%)
M-76.5
(-)
104
(75%)
-Positive
Mateo, 2008
Overlaps with
Alvarez-Arcaya, 2000
CL  1  (detail)  231
(68%)
C71.3 + 8.8
(48-93)
75.6 + 9
(50-97)
221
(60%)
80.1 + 8
(63-98)
n.a.
Mattila, 2000
Finland CL  1  (detail)  80
(64%)
M--67
(45%)
75.9 + 7.3
(-)
Positive
McIlroy, 2000
Ireland CL  1  (detail)  175
(65%)
C-77.7 + 5.9
(67-94)
187
(69%)
77.1 + 6
(67-96)
Positive
Panegyres, 1999
Australia CL  1  (detail)  38
(-)
N--30
(-)
-Positive
Piccardi, 2007
Italy CL  1  (detail)  158
(73%)
C74.4 + 6.7
(-)
76.8 + 6.9
(-)
118
(64%)
65.7 + 7.8
(-)
Negative
Prince, 2001
Sweden CL  1  (detail)  204
(61%)
M--186
(58%)
-Negative
Russ, 1998
UK CO  1  (detail)  203
(-)
C-82.4 + 6.7
(-)
122
(-)
80.4 + 4.6
(-)
Negative
Scacchi , 2008
Italy CL  2  (detail)  471
(69%)
C-78.5 + 5.2
(60-96)
254
(60%)
77.5 + 8.1
(60-95)
Negative
Singleton, 1998
UK CL  1  (detail)  119
(-)
N-78.3 + 9.4
(-)
83
(-)
78.3 + 7.7
(-)
Negative
Tilley, 1999
UK CL  1  (detail)  177
(62%)
N-81.6 + 8.6
(55-101)
118
(31%)
72.8 + 8.7
(58-94)
Positive
Wiebusch, 1999
Canada CL  2  (detail)  135
(53%)
N-78 + 7.8
(-)
70
(36%)
74 + 9.2
(-)
Positive
 Asian
Bi, 2001
China    1  (detail)  38
(-)
U--40
(-)
-Negative
Ki, 1999
Korea CL  1  (detail)  78
(78%)
C-73.2
(-)
74
(-)
73.8
(-)
Negative
Kim, 2001b
Korea    1  (detail)  164
(-)
C-71.7 + 8.7
(-)
239
(-)
69 + 5
(-)
Negative
Lee, 2000
China CL  1  (detail)  89
(53%)
C69.1 + 9.9
(-)
-101
(45%)
73 + 4.6
(-)
Negative
Yamada, 1998
Japan CL  1  (detail)  48
(-)
N-84.6 + 7.3
(-)
107
(-)
85.3 + 7.9
(-)
Negative
Yamada, 2002
Japan CL  1  (detail)  82
(-)
N-86.1 + 7.9
(62-104)
119
(-)
85.7 + 8
(65-103)
Negative
Yamamoto, 1999
Japan CL  1  (detail)  203
(-)
C-68.2 + 8.5
(-)
288
(-)
68.5 + 7.4
(-)
Negative
 Other/Mixed
Brindle, 1998
USA, Canada CL  1  (detail)  188
(64%)
M-73.2
(-)
165
(44%)
63.4
(-)
Negative
Crawford, 1998
USA CL,CO  1  (detail)  391
(31%)
C73 + 6.2
(-)
-201
(60%)
72.3 + 7.1
(-)
Negative
Raygani, 2004
Iran CL  1  (detail)  105
(57%)
C-75 + 10
(-)
129
(65%)
73.5 + 11.5
(-)
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.
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
 Caucasian
Grubber, 1999
USA  1  (detail)  163163
(-)
C--163
(-)
-Negative
 Other/Mixed
Bertram, 2000
USA  1  (detail)  220460
(-)
M--367
(-)
-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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Studies: 1395
Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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