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Meta-Analysis of All Published PD Association Studies (Case-Control Only)
MAPT_H1H2
Polymorphism:
MAPT_H1H2
Gene:
MAPT/STH
(TAU; MTBT2; FTDP-17; FLJ31424; MSTD; PPND; DDPAC; MAPTL; MTBT1; STH/MAPT)
View on ALSGene
View on AlzGene
View on MSGene
View on SZGene
Protein:
microtubule-associated protein tau/saitohin
(microtubule-associated protein tau; saitohin)
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.
Polymorphism:
MAPT_238bp-indel (significant)
rs10445337 (significant)
rs10445338 (significant)
rs1052551 (significant)
rs1052553 (significant)
rs1052587 (significant)
rs1078268 (significant)
rs1467967
rs17563986 (significant)
rs17573175 (significant)
rs17574228 (significant)
rs17650901 (significant)
rs17651549 (significant)
rs17652121 (significant)
rs17691610 (significant)
rs17770343 (significant)
rs1800547 (significant)
rs1981997 (significant)
rs199533 (significant)
rs242556
rs242557 (significant)
rs242562
rs2435205
rs2435207
rs2435211 (significant)
rs2471738
rs2942168 (significant)
rs3785880 (significant)
rs3785883
rs393152 (significant)
rs62063857 (significant)
rs7215239 (significant)
rs7521
rs754593
rs8070723 (significant)
rs9468 (significant)
1) Summary of Allele and Genotype Distribution of all Published Association Studies (by Ethnic Group)
Alleles
Genotypes
# Case-Control
Samples
H2-Allele
(frequency)
H1-Allele
(frequency)
H2/H2
(frequency)
H2/H1
(frequency)
H1/H1
(frequency)
Caucasian
12
PD
CTR
0.18
0.21
0.82
0.79
163 (0.035)
220 (0.051)
1339 (0.290)
1401 (0.324)
3123 (0.675)
2698 (0.625)
Asian
1
PD
CTR
0.00
0.00
1.00
1.00
0 (0.000)
0 (0.000)
0 (0.000)
1 (0.005)
173 (1.000)
190 (0.995)
Other/Mixed
1
PD
CTR
0.14
0.18
0.86
0.82
3 (0.029)
8 (0.060)
23 (0.223)
31 (0.233)
77 (0.748)
94 (0.707)
Total
14
PD
CTR
0.17
0.20
0.83
0.80
166 (0.034)
228 (0.049)
1362 (0.278)
1433 (0.309)
3373 (0.688)
2982 (0.642)
Meta-Analysis Methods
2) Forest plot for polymorphism
MAPT_H1H2
Please also
see disclaimer
for more information on these meta-analyses.
Meta-analyses have not been performed on the following polymorphisms since they lack published genotype data in at least four independent case-control samples, or the published genotype data was otherwise not eligible for inclusion (see
methods
for details):
chr17:41367654
chr17:41416612
hCV3202946
MAPT_108C/T (H1H2)
MAPT_110173G/A
MAPT_199deltaC (H1H2)
MAPT_-226C/G (H1H2)
MAPT_-349T/C (H1H2)
MAPT_-373G/C-MspI (H1H2)
MAPT_-373G/C-MspI (H1H2)
MAPT_-45A/G (H1H2)
MAPT_-568indel (H1-poly)
MAPT_-592indel (H1H2)
MAPT_-623indel (H1H2)
MAPT_-639C/T (H1-poly)
MAPT_H1H2
MAPT_H1H2
MAPT_H1-SNP12
MAPT_H1-SNP4
MAPT_H1-SNP5
MAPT_indel-intron10
MAPT_SNP-BanII-exon3 (H1H2)
MAPT_SNP-Tsp509I (exon13-H1H2)
rs10514889
rs11568305 (H1-SNP3/9iii)
rs11867549
rs12150242
rs12150530
rs12947764
rs1467966
rs1560310
rs16940758
rs16940799
rs16940806
rs17563965
rs17564829
rs17571857
rs17573266
rs17573509
rs17574005
rs17574040
rs17649641
rs17650417
rs1880753
rs1880756
rs1991556
rs2055797
rs2158257
rs2258689 (H1-SNP14)
rs2303867
rs242559
rs242928
rs2435200
rs2435214
rs2942167
rs35908989
rs3744456
rs3744457
rs3744460
rs41543317 (hCV2560324)
rs41543317
rs41543512
rs4792891
rs4792893
rs4792894
rs62063786 (SNP19)
rs62063787 (SNP20)
rs63750222 (97065C/T)
rs6503453
rs72293848 (2bpSTR-intron 9)
rs767057
rs8078967
rs8079215
rs878918
rs916896
rs9891103
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