AlzGene - Gene overview of all published AD-association studies for CYP46A1
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 Gene: CYP46A1  (CP46; CYP46)  Entrez Gene
 Protein: cytochrome P450, family 46, subfamily A, polypeptide 1   ProteinLink
 Chromosome: 14   (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
Borroni, 2004
Italy CL  1  (detail)  157
(62%)
C-72.2 + 7.9
(-)
134
(-)
-Positive
Chalmers, 2004
UK CL  1  (detail)  86
(53%)
N-79.5 + 7.2
(60-93)
58
(41%)
78.8 + 8.2
(62-95)
Negative
Combarros, 2004
Spain CL  1  (detail)  321
(68%)
C71.9 + 8.8
(48-95)
75.6 + 9
(50-98)
315
(70%)
80.3 + 7.7
(63-100)
Positive
Del Pozo, 2005
Spain CL  1  (detail)  100
(76%)
C71.7 + 8.3
(-)
75.1 + 7.8
(-)
119
(62%)
77.6 + 9.7
(-)
Positive
Desai, 2002
USA CL  1  (detail)  434
(70%)
M71.2 + 6.1
(-)
77.5 + 6.6
(-)
401
(62%)
74.7 + 5
(-)
Negative
Giedraitis, 2009
Sweden (ULSAM) CL  2  (detail)  86
(0%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Negative
Golanska, 2005
Poland    2  (detail)  215
(67%)
C71.4 + 5.2
(-)
76.7 + 5.1
(59-89)
173
(76%)
71.9 + 6.4
(60-88)
Positive
Golanska, 2009
Overlaps with
Golanska, 2005
CL  2  (detail)  213
(67%)
C71.4 + 5.2
(56-84)
76.7 + 5.2
(62-89)
171
(75%)
71.9 + 6.4
(60-88)
n.a.
Helisalmi, 2006
Finland CL  1  (detail)  422
(69%)
C72 + 7
(-)
-469
(61%)
70 + 5
(-)
Positive
Johansson, 2004
Sweden (Set A) CL  2  (detail)  452
(61%)
C73.3 + 7.6
(-)
76.3 + 7
(-)
403
(67%)
79.9 + 4.1
(-)
Negative
Johansson, 2004
Sweden (Set B) CL  2  (detail)  93
(62%)
N69.8 + 10.2
(-)
80.2 + 8.2
(-)
102
(44%)
76.7 + 9.6
(-)
Negative
Johansson, 2004
Scotland CL  2  (detail)  121
(58%)
C52.4 + 6.8
(-)
57.8 + 6.3
(-)
152
(38%)
58.2 + 9.8
(-)
Negative
Juhasz, 2005
Hungary CL  1  (detail)  125
(63%)
C-74.4 + 6.4
(-)
102
(56%)
73.5 + 5.3
(-)
Negative
Kabbara, 2004
France CL  1  (detail)  601
(61%)
C69.5 + 7.4
(-)
72.4 + 7.2
(-)
631
(64%)
72.5 + 7.9
(-)
Negative
Koelsch, 2002
Overlaps with
Koelsch, 2009
CL  2  (detail)  114
(64%)
C-71.5 + 8.4
(-)
144
(53%)
68.8 + 13.4
(-)
Positive
Koelsch, 2009
Germany CL  16  (detail)  455
(68%)
C-73.1 + 8.6
(53-101)
327
(54%)
73.9 + 7.5
(65-100)
Positive
Papassotiropoulos, 2003
I (Greece, Italy) CL  1  (detail)  107
(64%)
C-72.7 + 5.6
(-)
76
(66%)
72.9 + 4.8
(-)
Positive
Papassotiropoulos, 2003
II (Switzerland) CL  1  (detail)  94
(53%)
C-75.2 + 7.3
(-)
172
(42%)
74.4 + 6.8
(-)
Positive
Papassotiropoulos, 2005
Overlaps with
Papassotiropoulos, 2003 (I)
CL  1  (detail)  ------n.a.
Papassotiropoulos, 2005
Overlaps with
Papassotiropoulos, 2003 (II)
CL  1  (detail)  ------n.a.
Shibata, 2005
USA, Canada CL  2  (detail)  218
(53%)
C75 + 8.4
(-)
-195
(52%)
73.1 + 9.3
(-)
Negative
Tedde, 2005
Italy CL  1  (detail)  296
(66%)
M70.6 + 5.5
(-)
-177
(72%)
83.3 + 18.7
(-)
Negative
 African Descent
Desai, 2002
USA CL  1  (detail)  54
(72%)
M72.1 + 5.6
(-)
76.9 + 5.6
(-)
61
(75%)
70.9 + 6.1
(-)
Negative
 Asian
Li, 2006
China CL  2  (detail)  130
(81%)
C-78.9 + 6
(65-93)
110
(71%)
72.1 + 5.8
(65-90)
Positive
Ma, 2006
China CL  4  (detail)  182
(82%)
C-78
(66-97)
179
(75%)
73
(65-89)
Positive
Wang, 2004
China CL  1  (detail)  99
(51%)
C-78.9 + 6.5
(64-97)
113
(31%)
68 + 2.8
(65-77)
Positive
Wang, 2007
China CL  1  (detail)  168
(56%)
C69.3 + 7.3
(-)
73.5 + 8.4
(-)
215
(63%)
72.3 + 7.6
(-)
Negative
 Other/Mixed
Ingelsson, 2004
USA CL  1  (detail)  178
(65%)
M-76.8
(-)
105
(56%)
67.6
(-)
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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