AlzGene - Gene overview of all published AD-association studies for MTHFR
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 Gene: MTHFR   Entrez Gene    View on ALSGene   View on MSGene   View on PDGene   View on SZGene
 Protein: 5,10-methylenetetrahydrofolate reductase (NADPH)   ProteinLink
 Chromosome: 1   (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
Anello, 2004
Italy CL  2  (detail)  180
(-)
C-71 + 6.6
(-)
181
(-)
69.5 + 12.7
(-)
Negative
Blomqvist, 2005
Scotland CL  1  (detail)  121
(58%)
C-57.8 + 6.3
(-)
165
(37%)
58.3 + 9.9
(-)
Negative
Blomqvist, 2005
Overlaps with
Prince, 2001
CL  1  (detail)  819
(63%)
M-76.2 + 7.1
(-)
240
(59%)
73.2 + 9.3
(-)
n.a.
Bosco, 2004
Italy    2  (detail)  152
(54%)
C-74.8
(47-99)
136
(55%)
69.3
(55-99)
Negative
Brunelli, 2001
Italy CL  1  (detail)  231
(61%)
C66.7 + 8.1
(-)
-137
(-)
74.5 + 25.1
(19-106)
Negative
Chapman, 1998
Israel CL  1  (detail)  49
(-)
C74.8 + 9.7
(-)
-40
(-)
72.7 + 7.8
(-)
Negative
Dorszewska, 2007
Poland CL  3  (detail)  38
(61%)
C-66.3 + 12.2
(36-85)
50
(68%)
44.6 + 16.2
(22-76)
Negative
Giedraitis, 2009
Sweden (ULSAM) CL  2  (detail)  86
(0%)
C80.2
(72-85)
-404
(0%)
81.8
(80-84)
Negative
Linnebank, 2004
Germany CL  2  (detail)  162
(68%)
C-72 + 9
(-)
169
(56%)
71 + 7
(-)
Negative
McIlroy, 2002
Ireland CL  1  (detail)  83
(70%)
C-77.2 + 8.1
(-)
71
(80%)
74.3 + 7.6
(-)
Negative
Pollak, 2000
Israel CL  1  (detail)  92
(78%)
C-85 + 7.2
(-)
82
(74%)
82 + 8.2
(-)
Negative
Postiglione, 2001
Italy CL  1  (detail)  74
(39%)
C-68 + 8
(-)
74
(43%)
68 + 7
(-)
Negative
Prince, 2001
Sweden CL  1  (detail)  204
(61%)
M--186
(58%)
-Negative
Ravaglia, 2004
Italy PO  2  (detail)  26
(-)
U--122
(-)
73.8 + 7.1
(-)
Negative
Religa, 2003
Overlaps with
Styczynska, 2008
CL  1  (detail)  99
(-)
C-74.2 + 6.3
(-)
100
(-)
71.2 + 6
(-)
n.a.
Seripa, 2003
Italy CL,CO  1  (detail)  126
(59%)
C65.9 + 7.2
(-)
69.3 + 7
(53-84)
1338
(56%)
39.6 + 9.1
(22-86)
Negative
Styczynska, 2008
Poland CL  1  (detail)  154
(66%)
C71.5 + 4.6
(-)
-176
(68%)
72.7 + 6.2
(-)
Negative
Wehr, 2006
Poland CL  1  (detail)  100
(66%)
C-71.8 + 7.9
(52-91)
144
(53%)
70.5 + 8.8
(47-93)
Negative
Zuiliani, 2001
Italy CL  1  (detail)  40
(70%)
C-79.2 + 1
(-)
54
(67%)
82.1 + 0.8
(-)
Negative
 Asian
Bi, 2008
China CL  1  (detail)  386
(53%)
C68.8 + 8.6
(47-90)
-375
(47%)
67.4 + 8.8
(45-90)
Negative
Kageyama, 2009
Japan CL  1  (detail)  ------n.a.
Kim, 2007
Korea CO  1  (detail)  86
(83%)
C-77.6 + 6.8
(-)
625
(56%)
72 + 5.3
(-)
Positive
Li, 2009
China CL  1  (detail)  198
(40%)
C-73.6 + 6.5
(-)
240
(39%)
71.5 + 4.8
(-)
Positive
Nishiyama, 2000
Japan    1  (detail)  24
(-)
C-75.7 + 9.4
(-)
33
(-)
73 + 9.9
(-)
Trend
Wakutani, 2002
Japan CL  2  (detail)  241
(-)
U--352
(-)
-Negative
Wakutani, 2004 (I)
Japan    2  (detail)  223
(75%)
C-74.5 + 8.8
(-)
323
(70%)
73.1 + 9
(-)
Negative
Wakutani, 2004 (II)
Overlaps with
Wakutani, 2002
   3  (detail)  129
(76%)
C74.4 + 5.4
(65-85)
-178
(73%)
74.4 + 4.5
(65-85)
n.a.
Wang, 2005
China    1  (detail)  104
(46%)
C-79.2 + 6.3
(64-97)
130
(30%)
68.1 + 2.8
(65-77)
Positive
Zhang, 2005
China CL  1  (detail)  105
(48%)
C-71.2 + 6.7
(55-87)
102
(49%)
69.5 + 7
(51-87)
Negative
 Other/Mixed
Fernandez, 2005
Brazil CL  1  (detail)  30
(80%)
C-73.5 + 18.5
(-)
29
(83%)
76 + 17
(-)
Negative
Keikhaee, 2006
Iran CL  1  (detail)  117
(52%)
C-73.6 + 6.3
(-)
125
(59%)
69.8 + 6.2
(-)
Positive
Seripa, 2003
USA CL  1  (detail)  124
(54%)
M71.7 + 8.5
(-)
80.9 + 7.6
(64-98)
97
(53%)
84 + 8.6
(65-105)
Negative
Silva, 2006
Brazil CL  2  (detail)  42
(83%)
C-73.8 + 7.2
(56-86)
50
(74%)
73.9 + 6.5
(61-89)
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
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)
Negative
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)
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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Genes: 695
Polymorphisms: 2973
Meta-analyses: 320
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