Additional file 7. Enriched GO Categories (Top 10 GO categories with p-value < 10-2).
Normal: T-tau
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
GO:0004064
GO:0048568
GO:0035108
GO:0035107
GO:0060173
GO:0048736
GO:0048048
GO:0006897
GO:0010324
GO:0031901
3
28
48
48
50
50
8
160
160
26
2
3
4
4
4
4
2
6
6
2
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
GO:0006508
GO:0048566
GO:0008233
GO:0004175
Normal: Aβ1-42
835
8
472
307
Total
FUNCTION
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
CELLULAR
Expected
No. of
Genes on
List
0.02
0.35
0.64
0.64
0.65
0.65
0.1
1.74
1.74
0.11
Pvaluec
Expected
Hits per
Studyd
0
0.0024
0.0028
0.0028
0.0036
0.0036
0.0046
0.0052
0.0052
0.0062
0.52
3.66
4.17
4.17
5.2
5.2
6.45
7.16
7.16
8.42
Pvaluec
Expected
Hits per
Studyd
15
2
10
7
Expected
No. of
Genes on
List
6.26
0.16
4.14
2.38
0.0008
0.0068
0.0086
0.0088
1.82
9.94
12.43
12.7
No. Of
Expected
P-
Expected
Function
arylesterase activity
embryonic organ development
limb morphogenesis
appendage morphogenesis
limb development
appendage development
embryonic eye morphogenesis
endocytosis
membrane invagination
early endosome membrane
Normal: P-tau181P
PROCESS
PROCESS
FUNCTION
FUNCTION
GO Categorya Typeb
Function
proteolysis
embryonic gut development
peptidase activity
endopeptidase activity
Function
Genes in
Category
Genes
on List
valuec
Hits per
Studyd
8.00E03
0.0082
0.0092
0.0096
11.81
cerebral cortex development
12.06
13.35
13.91
methionine metabolic process
actinin binding
pallium development
GO:0021987
PROCESS
15
2
No. of
Genes on
List
0.18
GO:0006555
GO:0042805
GO:0021543
MCI: T-tau
PROCESS
11
FUNCTION 4
PROCESS
20
2
2
2
0.17
0.17
0.19
Expected
No. of
Genes on
List
0.09
0.09
0.11
0.16
0.17
0.53
Pvaluec
Expected
Hits per
Studyd
0.0028
0.0028
0.0052
0.0078
0.0082
0.0096
4.58
4.58
7.78
11.09
11.62
13.51
Expected
No. of
Genes on
List
0.88
0.1
0.08
0.08
Pvaluec
Expected
Hits per
Studyd
0.0018
0.0024
0.0024
0.0024
2.68
3.42
3.42
3.42
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
GO:0006506
GO:0006505
GO:0046489
GO:0007528
GO:0007090
GO:0006029
MCI: P-tau181P
26
26
32
9
9
31
2
2
2
2
2
3
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
GO:0051347
GO:0010906
GO:0001518
GO:0034706
140
15
12
12
5
2
2
2
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
CELLULAR
CELLULAR
Function
GPI anchor biosynthetic process
GPI anchor metabolic process
phosphoinositide biosynthetic process
neuromuscular junction development
regulation of S phase of mitotic cell cycle
proteoglycan metabolic process
Function
positive regulation of transferase activity
regulation of glucose metabolic process
voltage-gated sodium channel complex
sodium channel complex
GO:0015980
GO:0005248
GO:0046320
GO:0045444
GO:0004860
GO:0019210
MCI: Aβ1-42
PROCESS
FUNCTION
PROCESS
PROCESS
FUNCTION
FUNCTION
74
15
15
22
26
27
3
2
2
2
2
2
0.29
0.09
0.1
0.09
0.11
0.12
0.0032
0.0032
0.004
0.0044
0.0044
0.0046
4.36
4.36
5.26
5.67
5.67
5.91
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
Pvaluec
Expected
Hits per
Studyd
GO:0006633
GO:0042832
GO:0001562
GO:0006631
GO:0046394
GO:0016053
GO:0030856
GO:0002313
GO:0002312
GO:0002335
AD: T-tau
64
3
3
154
75
75
7
4
4
4
7
2
2
10
7
7
2
2
2
2
Expected
No. of
Genes on
List
1.26
0.03
0.03
2.7
1.49
1.49
0.06
0.14
0.14
0.14
0
0.0006
0.0006
0.0008
0.0008
0.0008
0.0008
0.0014
0.0014
0.0014
0.54
1.66
1.66
2.05
2.05
2.05
2.05
3.2
3.2
3.2
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
Pvaluec
Expected
Hits per
Studyd
GO:0019882
GO:0048002
43
19
3
2
Expected
No. of
Genes on
List
0.12
0.06
0
0.0014
0.52
2.51
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
energy derivation by oxidation of organic compounds
voltage-gated sodium channel activity
regulation of fatty acid oxidation
fat cell differentiation
protein kinase inhibitor activity
kinase inhibitor activity
Function
fatty acid biosynthetic process
defense response to protozoan
response to protozoan
fatty acid metabolic process
carboxylic acid biosynthetic process
organic acid biosynthetic process
regulation of epithelial cell differentiation
mature B cell differentiation during immune response
B cell activation during immune response
mature B cell differentiation
Function
antigen processing and presentation
antigen processing and presentation of peptide
GO:0016853
GO:0015833
AD: P-tau181P
FUNCTION 99
PROCESS
27
GO Categorya Typeb
Total
Genes in
Category
antigen
isomerase activity
peptide transport
3
2
0.4
0.14
0.0056
0.007
7.8
9.5
No. Of
Genes
on List
Pvaluec
Expected
Hits per
Studyd
Function
0.0002
0.002
0.87
3.78
response to abiotic stimulus
hydroxymethyl-, formyl- and related transferase
activity
glycine hydroxymethyltransferase activity
behavioral response to pain
regulation of growth
drug transport
nucleobase biosynthetic process
chromosome condensation
nucleobase, nucleoside and nucleotide biosynthetic
process
nucleobase, nucleoside
GO:0009628
GO:0016742
PROCESS
187
FUNCTION 6
8
2
Expected
No. of
Genes on
List
1.98
0.09
GO:0004372
GO:0048266
GO:0040008
GO:0015893
GO:0046112
GO:0030261
GO:0034404
FUNCTION
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
PROCESS
7
4
198
11
10
19
12
2
2
7
2
2
2
2
0.09
0.13
1.87
0.06
0.19
0.11
0.19
0.002
0.002
0.0026
0.0026
0.004
0.0042
0.0046
3.78
3.78
4.71
4.71
6.88
7.17
7.74
GO:0034654
AD: Aβ1-42
PROCESS
12
2
0.19
0.0046
7.74
GO Categorya Typeb
Total
Genes in
Category
No. Of
Genes
on List
Pvaluec
Expected
Hits per
Studyd
GO:0034961
PROCESS
1648
20
Expected
No. of
Genes on
List
11.3
11.47
cellular biopolymer biosynthetic process
GO:0043284
GO:0051252
PROCESS
PROCESS
1648
1816
20
23
11.3
13.74
7.40E03
0.0074
0.009
11.47
13.6
biopolymer biosynthetic process
regulation of RNA metabolic process
Function
a
List of significantly overrepresented GO categories for three CSF biomarkers in case/control (cutoff for significant SNPs: p-value < 10-3).
b
The type of category.
c
The category-specific p-value for over-representation.
d
The expected number of categories with a category-specific overrepresentation p-value at least as significant as that observed in the absence of
any true overrepresentation.