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Gene overview of all published PD-association studies for MTHFR
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 Gene: MTHFR   Entrez Gene    View on AlzGene   View on MSGene   View on SZGene
 Protein: 5,10-methylenetetrahydrofolate reductase (NADPH)  (Methylenetetrahydrofolate reductase; methylenetetrahydrofolate reductase intermediate form)  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 June 2010
Meta-Analysis
1. Case-Control Studies (by ethnic group)
      PD Cases Normal Controls    
Study Population Source # Polys # Subjects
(% women)
DX Onset Age
(range)
Age
(range)
# Subjects
(% women)
Age
(range)
Result Comment
 Caucasian
Caccamo, 2007
Italy CL  2  (detail)  49
(55%)
C58.4 + 7.6
(-)
64.2 + 7.5
(-)
86
(53%)
64.1 + 7.1
(-)
NegativeSubmit comment 
De Lau, 2005
Netherlands PO  1  (detail)  65
(54%)
C-74.9 + 7.2
(-)
5855
(58%)
68.7 + 8.6
(-)
PositiveSubmit comment 
Dorszewska, 2007
Poland CL  3  (detail)  98
(38%)
C-60.8 + 10.7
(34-81)
50
(68%)
44.6 + 16.2
(22-76)
NegativeSubmit comment 
Fung, 2006
Overlaps with
Simon-Sanchez, 2009 (USA)
CL  2  (detail)  267
(-)
C--270
(-)
68
(55-88)
NegativeSubmit comment 
Harmon, 1997
Ireland CL  1  (detail)  188
(-)
C--184
(-)
-NegativeSubmit comment 
Kuhn, 2001
Germany CL  1  (detail)  82
(30%)
C-63.1 + 10.7
(-)
39
(36%)
61.5 + 10.8
(-)
n.a. 
Pankratz, 2008
USA (PROGENI, GenePD) CL  2  (detail)  857
(41%)
C61.9 + 10.8
(-)
-867
(60%)
54.8 + 13.1
(-)
NegativeSubmit comment 
Religa, 2006
Poland CL  1  (detail)  114
(-)
C-69.9
(-)
100
(-)
71.2 + 6
(-)
NegativeSubmit comment 
Simon-Sanchez, 2009
USA, Germany (GWAS) CL,PO  1  (detail)  1745
(45%)
C55.8
(7-98)
-4047
(50%)
-Negative 
Todorovic, 2006
Serbia CL  1  (detail)  113
(44%)
C--53
(36%)
60.8 + 13.1
(37-83)
PositiveSubmit comment 
Wullner, 2005
Germany CL  2  (detail)  342
(29%)
C-59 + 9
(-)
342
(50%)
58 + 16
(-)
PositiveSubmit comment 
 Asian
Lin, 2007
Taiwan CL  1  (detail)  94
(47%)
C61.2 + 10
(32-90)
69.5 + 11
(-)
146
(47%)
68.5 + 6.1
(-)
PositiveSubmit comment 
Mizuta, 2006
Overlaps with
Momose, 2002
CL  1  (detail)  190
(-)
C--190
(-)
-n.a.Submit comment 
Momose, 2002
Japan CL  1  (detail)  232
(51%)
C54.1 + 10.5
(24-80)
-249
(49%)
-NegativeSubmit comment 
Toda, 2003
Overlaps with
Momose, 2002
CL  1  (detail)  232
(51%)
C54.1 + 10.5
(24-80)
-249
(49%)
-n.a.Submit comment 
Yasui, 2000
Japan CL  1  (detail)  90
(66%)
C-64.8 + 12.6
(-)
50
(74%)
67.8 + 12.2
(-)
PositiveSubmit comment 
Yuan, 2009
Taiwan CL  2  (detail)  76
(63%)
C-71.3 + 9.8
(-)
110
(66%)
69.9 + 8.4
(-)
n.a. 
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 PD diagnosis ->  "C" (clinical PD diagnosis), "N" (neuropathological PD diagnosis), "M" (mixed, i.e. PD 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).
(-) :  Either no data provided or in case of overlap, data included in original study.
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PDGene Stats
Studies: 769
Genes: 547
Polymorphisms: 2409
Meta-analyses: 224
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