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PDGene - Gene overview of all published PD-association studies for MAPT/STH
Back Search Methods Disclaimer Credits
 Gene: MAPT/STH  (TAU; MTBT2; FTDP-17; FLJ31424; MSTD; PPND; DDPAC; MAPTL; MTBT1; STH/MAPT)  Entrez Gene    View on ALSGene   View on AlzGene   View on MSGene   View on SZGene
 Protein: microtubule-associated protein tau/saitohin  (microtubule-associated protein tau; saitohin)  ProteinLink
 Chromosome: 17   (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 17 December 2012 ;  Note that H1/H2-discriminating polymorphisms are meta-analyzed individually, as well as in a "pooled" meta-analysis combining all studies that report to have tested a H1H2-discriminating polymorphism. In addition to MAPT/STH, PLEKHM1 in 17q21 shows genome-wide significant effects in PDGene.
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
 Caucasian
Botta-Orfila, 2010
Overlaps with
Mata, 2011 (Spain)
CL  2  (detail)  757
(43%)
C-68.3 + 10.4
(-)
708
(58%)
69.4 + 13.4
(-)
n.a.
Chung, 2010
USA CL  33  (detail)  449
(35%)
-64.7
(23-88)
70.3
(44-90)
449
(35%)
71.8
(45-93)
Positive
Clark, 2003
USA CO  2  (detail)  47
(-)
C--129
(-)
-Negative
de Silva, 2002
Overlaps with
Spencer, 2010 (UK)
CL  2  (detail)  157
(39%)
N62
(36-81)
77
(51-94)
157
(46%)
71
(51-99)
n.a.
Elbaz, 2010
Australia (Mellick) CL,PO  3  (detail)  929
(38%)
C59.4 + 11.4
(-)
72.3 + 10.2
(-)
713
(64%)
66.6 + 9.9
(-)
Positive
Elbaz, 2010
Overlaps with
IPDGC, 2011 (France/Chartier-Harlin)
CL  3  (detail)  563
(46%)
C54.7 + 11.5
(-)
63.8 + 10.4
(-)
143
(55%)
65.2 + 11
(-)
Positive
Elbaz, 2010
Overlaps with
IPDGC, 2011 (Germany/Auberger)
CL  3  (detail)  232
(49%)
C56.2 + 10.8
(-)
71.9 + 11.4
(-)
47
(36%)
58.8 + 9.8
(-)
Positive
Elbaz, 2010
Overlaps with
IPDGC, 2011 (Germany/Klein)
CL  3  (detail)  522
(42%)
C43.9 + 12.9
(-)
61.5 + 12.3
(-)
289
(53%)
54.9 + 13.9
(-)
Positive
Elbaz, 2010
Greece (Bozi) CL  3  (detail)  135
(41%)
C66.4 + 10.7
(-)
72.6 + 10.4
(-)
95
(56%)
71.3 + 9.5
(-)
Positive
Elbaz, 2010
Greece (Hadjigeorgiou) CL  3  (detail)  322
(50%)
C64.6 + 9.4
(-)
68.8 + 9.1
(-)
315
(50%)
70 + 8.6
(-)
Positive
Elbaz, 2010
Ireland (Lynch) CL  3  (detail)  361
(42%)
C51.4 + 10.4
(-)
67.4 + 10.2
(-)
445
(64%)
66.6 + 24.2
(-)
Positive
Elbaz, 2010
Italy (Annesi) CL,PO  3  (detail)  190
(47%)
C61.3 + 9.4
(-)
71.8 + 9.4
(-)
168
(54%)
53.6 + 9.1
(-)
Positive
Elbaz, 2010
Italy (Ferrarese) CL  3  (detail)  103
(47%)
C62.3 + 10.4
(-)
67.8 + 9.6
(-)
102
(38%)
62.1 + 6.6
(-)
Positive
Elbaz, 2010
Italy (Valente) CL,PO  3  (detail)  189
(49%)
C58.4 + 8.2
(-)
67.6 + 8.5
(-)
95
(55%)
69 + 9.8
(-)
Positive
Elbaz, 2010
Norway (Aasly) CL  3  (detail)  603
(42%)
C59.3 + 10.9
(-)
73.5 + 10.7
(-)
526
(44%)
71.3 + 12.5
(-)
Positive
Elbaz, 2010
Poland (Opala) CL,PO  3  (detail)  349
(38%)
C57.1 + 11.6
(-)
70.1 + 10.6
(-)
340
(54%)
64.3 + 15.7
(-)
Positive
Elbaz, 2010
Overlaps with
IPDGC, 2011 (Germany/Krueger)
CL,PO  3  (detail)  335
(41%)
C-52.1 + 12.5
(-)
339
(45%)
53.2 + 12.2
(-)
Positive
Elbaz, 2010
Overlaps with
Wider, 2009 (USA)
CL  3  (detail)  378
(45%)
C62.1 + 11.9
(-)
71 + 11.2
(-)
364
(48%)
72.9 + 10.8
(-)
n.a.
Elbaz, 2010
Sweden (Wirdefeldt) CL,PO  3  (detail)  91
(44%)
C65.7 + 11
(-)
75.6 + 8.8
(-)
180
(56%)
73.7 + 10.1
(-)
Positive
Ezquerra, 2008
Overlaps with
Mata, 2011 (Spain)
CL  1  (detail)  138
(42%)
C-56 + 8.4
(-)
91
(56%)
67 + 9.2
(-)
n.a.
Ezquerra, 2009
Overlaps with
Mata, 2011 (Spain)
CL  8  (detail)  505
(46%)
M56.6 + 10.9
(-)
69.2 + 10
(-)
233
(48%)
68.8 + 9
(-)
Positive
Farrer, 2002
Overlaps with
Elbaz, 2010 (Norway)
CL  1  (detail)  96
(38%)
C60
(25-80)
69
(47-84)
68
(54%)
80
(68-96)
n.a.
Fidani, 2006
Overlaps with
Kalinderi, 2009
CL  4  (detail)  133
(37%)
C52.3
(-)
-113
(48%)
72.4
(-)
Positive
Fung, 2006
Overlaps with
Simon-Sanchez, 2009 (USA)
CL  15  (detail)  267
(-)
C--270
(-)
68
(55-88)
n.a.
Fung, 2006
Overlaps with
Elbaz, 2010 (Greece)
CL  7  (detail)  242
(41%)
C63.3 + 9.6
(30-88)
69.8 + 8.7
(44-95)
215
(44%)
68.3 + 12.8
(32-93)
Positive
Fung, 2006
Finland CL  7  (detail)  147
(41%)
C61.5 + 8.8
(40-87)
67.2 + 8.4
(37-87)
136
(63%)
66.4 + 9.2
(38-88)
Positive
Garcia-Gorostiaga, 2009
Spain CL  2  (detail)  314
(46%)
N-60.9 + 10.8
(35-83)
192
(60%)
60.9 + 11
(35-83)
Positive
Golbe, 2001
USA CL  1  (detail)  379
(38%)
C-67.7
(34-90)
132
(66%)
65.8 + 9.9
(40-83)
Positive
Goris, 2007
UK CL  5  (detail)  659
(-)
C--2176
(-)
-Positive
Hamza, 2010
USA (NGRC-GWAS) CL  24  (detail)  2000
(33%)
C58.3 + 11.9
(-)
67.2 + 10.6
(-)
1986
(61%)
70.3 + 14
(21-90)
Positive
Healy, 2004
Overlaps with
Spencer, 2010 (UK)
CL  2  (detail)  580
(48%)
M53.8
(-)
-513
(51%)
56.1
(-)
n.a.
Hoenicka, 1999
Spain CL  1  (detail)  18
(-)
C-59.7 + 11.6
(44-81)
79
(-)
52.1 + 9.9
(39-75)
Trend
IPDGC, 2011
France (GWAS) CL,PO  2  (detail)  1039
(41%)
U48.9 + 48.9
(-)
-1984
(33%)
73.7 + 5.4
(-)
Positive
IPDGC, 2011
France (REP-Immuno) CL  2  (detail)  267
(-)
U--363
(-)
-Positive
IPDGC, 2011
Germany (REP-Immuno) CL  2  (detail)  1153
(-)
U--712
(-)
-Positive
IPDGC, 2011
Netherlands (REP-in silico) CL,PO  2  (detail)  824
(-)
U--2082
(-)
-Positive
IPDGC, 2011
UK (REP-Immuno) CL  1  (detail)  1271
(-)
U--1864
(-)
-Positive
IPDGC, 2011
USA (PROGENI/GenePD-GWAS) CL  1  (detail)  876
(40%)
U61.5 + 61.5
(-)
-857
(60%)
-Positive
IPDGC, 2011
USA (NINDS-GWAS) CL  1  (detail)  971
(40%)
U55.9 + 55.9
(-)
-3034
(53%)
62 + 15.6
(-)
Positive
IPDGC, 2011
USA (REP-Immuno) CL  1  (detail)  2807
(-)
U--2215
(-)
-Positive
IPDGC, 2011
Germany (GWAS) CL  2  (detail)  742
(40%)
U56 + 56
(-)
-944
(48%)
-Positive
IPDGC, 2011
Netherlands (REP-Immuno) CL  2  (detail)  304
(-)
U--402
(-)
-Positive
IPDGC, 2011
UK (WTCCC-GWAS) CL,PO  1  (detail)  1705
(43%)
U--5200
(50%)
-Positive
Johansson, 2005
Sweden CL  2  (detail)  105
(43%)
C59 + 10.9
(-)
67 + 9.3
(-)
160
(61%)
69 + 9.2
(-)
Negative
Kalinderi, 2009
Greece CL  2  (detail)  196
(36%)
C52.9
(-)
-163
(59%)
71.6
(-)
Positive
Kay, 2010
Overlaps with
Hamza, 2010 (USA-NGRC)
CL  1  (detail)  2091
(32%)
C58.3 + 12.1
(8-93)
67.3 + 10.7
(21-96)
1686
(56%)
66.1 + 13.1
(25-99)
n.a.
Kwok, 2004
Overlaps with
Elbaz, 2010 (Australia)
CL  10  (detail)  206
(-)
C62
(-)
71
(-)
169
(-)
-n.a.
Kwok, 2005
Overlaps with
Elbaz, 2010 (Australia)
CL  2  (detail)  314
(57%)
M-66
(-)
310
(57%)
66
(-)
Positive
Levecque, 2004
Overlaps with
IPDGC, 2011 (France)
CO  5  (detail)  208
(-)
C63 + 7
(-)
67 + 7
(-)
483
(-)
67 + 7
(-)
Positive
Mamah, 2005
Overlaps with
Chung, 2010 (USA)
CL  2  (detail)  557
(44%)
C63
(28-87)
68
(31-91)
557
(54%)
68
(39-91)
n.a.
Maraganore, 2001
Overlaps with
Chung, 2010 (USA)
CL  1  (detail)  297
(-)
C----n.a.
Mata, 2011
Spain CL  1  (detail)  1445
(44%)
C60 + 12.2
(-)
68.1 + 11.2
(-)
1161
(58%)
68.9 + 11.2
(-)
Positive
McCulloch, 2008
Overlaps with
Hamza, 2010 (USA-Washington)
CL  2  (detail)  391
(26%)
C-67.3
(32-95)
293
(58%)
67.3
(30-93)
n.a.
McCulloch, 2008
Overlaps with
Hamza, 2010 (USA-Oregon)
CL  2  (detail)  172
(38%)
C-65.9
(39-87)
96
(55%)
67.8
(21-83)
n.a.
McCulloch, 2008
Overlaps with
Hamza, 2010 (USA-NY)
CL  2  (detail)  253
(35%)
C-68.1
(40-95)
214
(66%)
64.6
(34-94)
n.a.
McCulloch, 2008
Overlaps with
Hamza, 2010 (USA-Georgia)
CL  2  (detail)  116
(37%)
C-67.3
(40-97)
61
(67%)
68.5
(51-84)
n.a.
Morris, 1999
UK CL  1  (detail)  50
(-)
N--75
(-)
-Negative
Pankratz, 2008
USA (PROGENI, GenePD) CL  78  (detail)  857
(41%)
C61.9 + 10.8
(-)
-867
(60%)
54.8 + 13.1
(-)
Positive
Papapetropoulos, 2007
USA CL  2  (detail)  118
(28%)
N-77 + 7.9
(-)
91
(53%)
79.1 + 12.8
(-)
Negative
Pastor, 2000
Spain CL  1  (detail)  152
(45%)
C56.6 + 11
(-)
-150
(53%)
54.5 + 20
(-)
Positive
Payami, 2009
Re-analysis of Zabetian, 2007 CL  2  (detail)  ------n.a.
Peplonska, 2003
Poland CL  3  (detail)  100
(38%)
C64.7 + 8.5
(-)
70 + 7.8
(-)
100
(79%)
71.2 + 5.9
(-)
Negative
Refenes, 2009
Greece CL  5  (detail)  122
(41%)
C51.5
(-)
64.5 + 10.7
(-)
123
(33%)
63.7 + 17.2
(-)
Positive
Saad, 2010
Overlaps with
Simon-Sanchez, 2009 (WTCCC-GWAS)
CL  4  (detail)  1705
(42%)
C--5200
(50%)
51
(-)
n.a.
Saad, 2010
France (GWAS) CL  5  (detail)  1039
(41%)
C48.9 + 12.8
(-)
57.5 + 16.6
(-)
1984
(43%)
73.7 + 5.4
(-)
Positive
Simon-Sanchez, 2009
USA, Germany, UK (Stage II) CL,PO  7  (detail)  3452
(32%)
M61.1
(-)
-4756
(39%)
-Positive
Simon-Sanchez, 2009
USA, Germany (GWAS) CL,PO  19  (detail)  1745
(45%)
C55.8
(7-98)
-4047
(50%)
-Positive
Simon-Sanchez, 2009
USA (NINDS-GWAS) CL  58  (detail)  931
(40%)
C--790
(58%)
-Negative
Simon-Sanchez, 2011
Netherlands (GWAS) CL,PO  9  (detail)  772
(36%)
U55.3
(16-84)
62.3
(29-89)
2024
(56%)
53.7
(45-95)
Positive
Skipper, 2004
Overlaps with
Elbaz, 2010 (Norway)
CO  2  (detail)  296
(-)
C59 + 8
(-)
74 + 8
(-)
441
(-)
80 + 6
(-)
Positive
Skipper, 2004
Norway (H1H1-only) CO  8  (detail)  81
(-)
C-76 + 3.9
(71-86)
81
(-)
81 + 5.1
(72-93)
Positive
Spencer, 2010
Overlaps with
Simon-Sanchez, 2009 (WTCCC-GWAS)
CL,PO  4  (detail)  1705
(-)
C--5175
(-)
-Positive
Spencer, 2010
Overlaps with
Saad, 2010 (France-GWAS)
CL  3  (detail)  1039
(-)
C--1984
(-)
-Positive
Sutherland, 2009
Overlaps with
Elbaz, 2010 (Australia)
CL  6  (detail)  331
(51%)
C60.1 + 10.6
(-)
70.3 + 8.7
(-)
296
(51%)
70.5 + 8.9
(-)
Trend
Tobin, 2008
Mixed (GenePD) CL  17  (detail)  543
(45%)
C-70.3 + 10.4
(-)
245
(48%)
62.6 + 11.8
(-)
Positive
Trotta, 2011
Italy CL  3  (detail)  904
(40%)
C56.1 + 11
(-)
66.6 + 10.9
(-)
891
(66%)
62.4 + 14.6
(-)
Positive
Vandrovcova, 2007
Overlaps with
Spencer, 2010 (UK)
CL  7  (detail)  572
(-)
M--660
(-)
-Positive
Wider, 2009
Overlaps with
Elbaz, 2010 (Norway)
CL  4  (detail)  480
(39%)
C58.9 + 11
(30-88)
72.7 + 10.8
(45-99)
555
(44%)
70.6 + 12.5
(43-106)
Positive
Wider, 2009
USA CL  4  (detail)  378
(43%)
C62 + 12.2
(16-90)
72.7 + 11
(30-92)
409
(47%)
72.2 + 10.8
(33-92)
Positive
Wider, 2009
Overlaps with
Elbaz, 2010 (Ireland)
CL  4  (detail)  360
(40%)
C-66.5 + 10
(36-91)
437
(64%)
65 + 24.3
(22-103)
Positive
Wider, 2010
Overlaps with
Wider, 2009 (USA)
CL  2  (detail)  286
(44%)
C62 + 12
(16-85)
73 + 11
(39-92)
322
(45%)
72 + 11
(33-90)
n.a.
Wider, 2010
Overlaps with
Elbaz, 2010 (Norway)
CL  2  (detail)  420
(40%)
C59 + 11
(35-88)
73 + 11
(45-99)
464
(44%)
70 + 12
(43-106)
n.a.
Wider, 2010
Overlaps with
Elbaz, 2010 (Ireland)
CL  2  (detail)  314
(41%)
C52 + 11
(18-77)
66 + 10
(37-91)
309
(63%)
71 + 23
(23-102)
n.a.
Winkler, 2007
Overlaps with
IPDGC, 2011 (Germany)
CL  5  (detail)  256
(41%)
C46.4 + 12.2
(-)
55.9 + 12.4
(-)
162
(48%)
50.2 + 11.8
(-)
Negative
Winkler, 2007
Serbia CL  5  (detail)  191
(39%)
C47.7 + 9.7
(-)
53.5 + 10.3
(-)
156
(56%)
45.6 + 15.7
(-)
Positive
Zabetian, 2007
Overlaps with
Hamza, 2010
CL  6  (detail)  1762
(32%)
C58.7 + 11.6
(24-93)
68 + 10.6
(-)
2010
(63%)
67.4 + 18.3
(-)
Positive
Zappia, 2003
Italy CL  1  (detail)  300
(40%)
C58.9
(-)
66.3 + 8.9
(-)
197
(53%)
74.9 + 7.5
(-)
Positive
 African Descent
Camuzat, 2008
Guadeloupe CL  16  (detail)  40
(48%)
C-70.2 + 12.4
(-)
183
(58%)
65 + 11
(-)
Positive
 Asian
Fung, 2006
Taiwan CL  7  (detail)  119
(47%)
C61.7 + 10.9
(24-91)
68.9 + 10.3
(41-96)
260
(44%)
59 + 10.1
(31-84)
Negative
Kim, 2010
Korea CL  2  (detail)  878
(56%)
C56.6 + 9.5
(23-85)
64.2 + 9
(33-91)
559
(54%)
58.5 + 10.6
(37-85)
Negative
Kobayashi, 2006
Japan CL  5  (detail)  240
(62%)
C61
(28-84)
-191
(65%)
69
(20-92)
Positive
Kwok, 2005
China CL  2  (detail)  184
(48%)
C-70 + 0.8
(-)
184
(48%)
70 + 0.7
(-)
Trend
Mizuta, 2006
Overlaps with
Mizuta, 2008
CL  3  (detail)  882
(56%)
C57.4 + 10.9
(-)
64.9 + 9.8
(-)
938
(48%)
45.3 + 16.3
(-)
Negative
Mizuta, 2008
Japan CL  1  (detail)  882
(56%)
C57.4 + 10.9
(-)
64.9 + 9.8
(-)
938
(48%)
45.6 + 16.3
(-)
Negative
Satake, 2009
Japan (GWAS) CL  1  (detail)  1078
(55%)
C-58.8 + 10.1
(22-88)
2628
(45%)
49.9 + 14.2
(-)
Negative
Satake, 2009
Japan (Replication-1) CL  1  (detail)  612
(50%)
C43 + 13.8
(20-80)
-14139
(42%)
60.1 + 12.6
(-)
Negative
Satake, 2009
Japan (Replication-2) CL  1  (detail)  321
(55%)
C63.7 + 9.7
(-)
-1614
(55%)
59.1 + 19.1
(-)
Negative
Wang, 2012
China CL,PO  1  (detail)  2013
(39%)
C58.6 + 10.4
(-)
62.7 + 10.1
(-)
1971
(42%)
64.9 + 8.3
(-)
Positive
 Other/Mixed
Benitez, 2010
Colombia CL  2  (detail)  104
(49%)
C53.7 + 13.4
(-)
60.1 + 12.6
(-)
136
(54%)
62.4 + 9.5
(-)
Negative
Clark, 2003
USA CO  2  (detail)  37
(-)
C--329
(-)
-Negative
Das, 2009
India CL  6  (detail)  301
(25%)
C45 + 11
(-)
-243
(21%)
49 + 8
(-)
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
 Caucasian
Chung, 2010
USA  33  (detail)   654
(36%)
C60.4
(28-87)
66.3 + 30.8
(-)
654
(50%)
65.1
(32-90)
Positive
Mamah, 2005
Overlaps with
Maraganore, 2001
 1  (detail)  396396
(-)
U--396
(-)
-Positive
Maraganore, 2005
Overlaps with
Chung, 2010 (USA)
 30  (detail)  443443
(39%)
C61
(31-94)
68
(33-96)
443
(52%)
66
(29-90)
Negative
Martin, 2001
Overlaps with
Oliveira, 2004
 2  (detail)  235426
(56%)
C57.5
(-)
-579
(43%)
66.8
(-)
n.a.
Oliveira, 2004
USA & Australia  8  (detail)  644953
(33%)
C58.5 + 12.8
(14-90)
-843
(42%)
66.7 + 12.7
(18-96)
Positive
Wang, 2010
Overlaps with
Maraganore, 2005 (USA)
 10  (detail)  443443
(39%)
C60.9 + 11.2
(31-94)
66.1 + 10.6
(-)
443
(-)
65.7 + 11
(29-90)
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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Studies: 881
Genes: 915
Polymorphisms: 3446
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