AlzGene

Gene overview of all published AD-association studies for MTHFR

Gene:

MTHFR

View on ALSGene View on MSGene View on PDGene View on SZGene

Protein:

5,10-methylenetetrahydrofolate reductase (NADPH)

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

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%)	C	66.7 + 8.1 (-)	-	137 (-)	74.5 + 25.1 (19-106)	Negative
Chapman, 1998	Israel	CL	1 (detail)	49 (-)	C	74.8 + 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%)	C	80.2 (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%)	C	65.9 + 7.2 (-)	69.3 + 7 (53-84)	1338 (56%)	39.6 + 9.1 (22-86)	Negative
Styczynska, 2008	Poland	CL	1 (detail)	154 (66%)	C	71.5 + 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%)	C	68.8 + 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%)	C	74.4 + 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%)	M	71.7 + 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)	217	222 (59%)	M	69.2 + 9 (50-89)	-	267 (63%)	72.9 + 8.8 (49-92)	Negative
Schjeide, 2009	USA (NCRAD)	1 (detail)	340	741 (74%)	M	71.3 + 7.6 (50-98)	-	300 (55%)	71 + 8.4 (39-93)	Negative
Schjeide, 2009	USA (NIA)	1 (detail)	351	803 (64%)	M	74.1 + 7.1 (52-98)	-	290 (59%)	73.3 + 9.5 (36-94)	Negative
Schjeide, 2009	USA (NIMH)	1 (detail)	436	995 (74%)	M	72.4 + 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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