Beruflich Dokumente
Kultur Dokumente
tSNP
t
en
id
nf
Co
rs3212657
PCR
Primer sequence
program
F-TCCTGCCACCCAGTCAGT
Assay-by-
FAM/VIC-ACATACAGACATAAGATG
Design
R-GAAGAGAATGGGTTGGAGAGATAAGAAA
rs1645761
F-CTCAAAACCACTGCTCCTTACATG
Assay-by-
FAM/VIC-ATGTGAACCGTAAGTAA
Design
ia
R-AGACAATTCATTCAAGGGCTGCT
rs3756541
l:
F-GAGAAGTGGCTTGGAACAGGG
65TD55
R-GCCACCATCTGGTAGACTTGCC
rs1862639
Fo
F-CTGCCTCCCTCAAAGTCCTATT
65TD55
R-CCTTGATAAACTGAGGTGCA
S1-CAGCTTCCTCCTTAGRG
F-GCTTTTGGCATCTTTATCATGAAATCCT
FAM/VIC-CCATTCCAAACATTG
Assay-by-
ev
rs152088
rR
Design
w
ie
R-GCAAAACCTGAAAGTATAAAACCTGGAA
rs3212418
F-CAAGTTATCATACAGATATGAACAAGTTTATACAAGACT
FAM/VIC-CAATTCCATAGAACTCT
R-TTTCATCTCAGTAACTCAAATGGTCACA
rs989073
F-GGAATAGCCTCTTGGTGATGT
S1-ATAGCCTCTTGGTGATG
65TD55
ly
R-AAGGCCTCGGTGAAATCC
Assay-byDesign
On
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
Page 26 of 56
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
Page 27 of 56
tSNP
t
en
id
nf
Co
rs1363192
PCR
Primer sequence
program
F-ACAATGATTGTTCTGATGTTATTTTTCAGTTGAG
Assay-by-
FAM/VIC-CTAAGACAAATCACATGCC
Design
R-CCACTGCCACATGTGAAAAACTAAA
rs3212460
F-GCTCTGCAGCCTCACACATTAA
Assay-by-
FAM/VIC-AACGCAATGCTTTC
Design
ia
R-GCATTGAATTTAGTGTCATCAATATAGGTACTTG
rs3212476
l:
F-CAGCGTTAGTGACTGCAGTTAATTG
Assay-by-
FAM/VIC-CTTTGCCCACTTCC
Design
Fo
R-CACAAATGAGGTTCACTGACTACCA
rs984966
F-GTTGCTGACAATAAAGGGTTGTTCT
Assay-by-
rR
FAM/VIC-ATGGCTTTACCCCCC
Design
R-ATTTTCTCAGTATTCTAAGTAAGTCTAAAGAGTTTAGTTTTT
rs10513009 F-GGTGTCTTGGTAAGTGGGTAACA
ev
FAM/VIC-CCTGTGAAATTTGT
Assay-by-
w
ie
Design
R-TCTAAGTGTGAGTTAAAGTGATATCGACCT
rs2303124
F-CCTTCAAGGGATTGTGGGACTATATC
FAM/VIC-CACTCTTTACCCTATCCAT
R-TGCTGATTATCTCCTGAGGCTATCT
Assay-byDesign
ly
On
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
t
en
id
nf
Co
Controls*
Variable
Cases (n=484)
Controls (n=263)
P value
65.614.2
60.014.7
<0.001
Female
226/484 (46.7)
163/263 (62.0)
<0.001
White
379/484 (78.3)
210/263 (79.8)
0.62
15/263 (5.7)
<0.001
71/480 (14.8)
18/262 (6.9)
0.002
Chronic AF
35/480 (7.3)
10/262 (3.8)
0.06
Paroxysmal AF
40/478 (8.4)
9/262 (3.4)
0.01
Ever smoking
318/481 (66.1)
124/263 (47.1)
<0.001
Hypertension
335/482 (69.5)
101/260 (38.9)
<0.001
Hyperlipidemia
215/433 (49.7)
56/211 (26.6)
<0.001
Diabetes mellitus
119/484 (24.6)
34/263 (12.9)
<0.001
Age, meanSD, y
Risk factors
ia
Myocardial infarction
82/482 (17.0)
l:
AF
stroke
252/481 (52.4)
w
ie
Family history of
ev
rR
Fo
88/263 (33.5)
<0.001
AF, atrial fibrillation; ISGS, Ischemic Stroke Genetics Study; MSGD, Mayo Stroke
On
ly
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
49
50
51
52
53
54
55
56
57
58
59
60
Page 28 of 56
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
Page 29 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
Supplementary Table 3. tSNP Association Analysis (Adjusted for Age, Sex, Myocardial Infarction, Atrial
nf
Fibrillation, Smoking, Family History, and Diabetes Status) for Ischemic Stroke in White
id
Patients
en
tia
11
12
22
456
117
14
Case
301
71
155
46
52332999 Total
442
135
11
Case
293
81
Control
149
54
52338852 Total
294
205
59
Case
177
139
43
Control
117
66
16
52343127 Total
373
193
22
Case
243
125
11
Control
130
68
11
tSNP major/minor
Location
rs3212657 T/C
52324239 Total
Group
Control
rs1645761 A/G
rs3756541 C/T
rs1862639 C/T
No. of genotypes*
l:
Fo
Association (P value)
rR
0.06
0.15
0.32
0.18
0.32
0.06
0.08
0.009
0.01
ev
iew
0.03
0.65
0.07
0.36
On
ly
0.56
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.75
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 30 of 56
Co
nf
tSNP major/minor
rs152088 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52344772 Total
tia
403
160
22
Case
267
100
11
136
60
11
195
271
116
136
172
67
59
99
49
52369177 Total
257
237
70
Case
169
152
45
88
85
25
52373840 Total
294
243
50
Case
186
169
24
Control
108
74
26
Control
rs3212418 T/C
52351929 Total
Case
Control
rs989073 C/A
Control
rs1363192 A/C
l:
Fo
Association (P value)
rR
0.38
0.31
0.40
0.34
0.28
0.14
0.18
0.32
0.70
0.89
ev
0.54
iew
0.14
0.09
On
0.63
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.70
Page 31 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
nf
tSNP major/minor
rs3212460 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52376431 Total
tia
544
23
21
Case
349
15
15
195
325
220
41
Case
216
137
25
Control
109
83
16
52404679 Total
201
288
98
Case
131
187
60
70
101
38
52407631 Total
487
94
Case
314
63
Control
173
31
Control
rs3212476 C/G
rs984966 T/A
52379113 Total
Control
rs10513009 C/T
l:
Fo
Association (P value)
rR
0.12
0.19
0.34
0.31
0.96
0.24
0.14
0.86
0.76
0.76
ev
0.95
iew
0.18
0.07
On
0.19
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.36
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 32 of 56
Co
nf
tSNP major/minor
rs2303124 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52414713 Total
tia
235
221
112
Case
142
150
75
93
71
37
Control
l:
Fo
Association (P value)
General Dominant Additive Recessive
0.08
0.55
0.08
rR
0.03
*Genotype 11 indicates the presence of both major alleles; genotype 12, 1 major allele and 1 minor allele; and
ev
iew
On
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
Page 33 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
Supplementary Table 4. tSNP Association Analysis (Adjusted for Age, Sex, Myocardial Infarction, Atrial
nf
Fibrillation, Smoking, Family History, and Diabetes Status) for Ischemic Stroke in Nonwhite
id
Patients
en
tia
tSNP major/minor
Location
rs3212657 T/C
52324239 Total
Group
Case
Control
rs1645761 A/G
rs3756541 C/T
rs1862639 C/T
No. of genotypes*
11
12
22
139
18
11
l:
94
45
Fo
7
Association (P value)
rR
0.71
0.71
0.21
0.08
0.11
0.28
0.02
0.02
52332999 Total
76
63
19
Case
53
42
Control
23
21
52338852 Total
115
32
Case
70
25
Control
45
52343127 Total
90
59
Case
63
37
Control
27
22
10
ev
iew
<0.001
0.34
0.31
On
ly
0.14
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.19
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 34 of 56
Co
nf
tSNP major/minor
rs152088 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52344772 Total
tia
96
50
12
Case
68
31
28
19
Fo
72
68
20
29
52369177 Total
71
69
Case
48
47
Control
23
22
52373840 Total
86
56
16
Case
59
38
Control
27
18
Control
rs3212418 T/C
52351929 Total
Case
Control
rs989073 C/A
rs1363192 A/C
l:
18
14
52
Association (P value)
rR
0.39
0.35
0.46
0.13
0.04
0.08
0.60
0.24
0.28
0.48
39
15
ev
0.47
iew
0.35
0.22
On
0.16
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.24
Page 35 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
nf
tSNP major/minor
rs3212460 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52376431 Total
tia
143
10
Case
93
50
Fo
82
22
Control
rs3212476 C/G
rs984966 T/A
rs10513009 C/T
52379113 Total
l:
54
57
Association (P value)
rR
Case
35
Control
19
25
52404679 Total
73
67
Case
49
45
11
Control
24
22
52407631 Total
113
38
Case
72
29
Control
41
0.63
0.64
0.39
0.34
0.42
0.50
0.77
0.37
0.48
0.64
0.85
13
18
ev
0.78
iew
0.33
0.24
On
0.98
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
0.61
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 36 of 56
Co
nf
tSNP major/minor
rs2303124 C/T
id
No. of genotypes*
en
Location
Group
11
12
22
52414713 Total
tia
124
24
Case
80
19
44
Control
l:
Fo
Association (P value)
General Dominant Additive Recessive
0.06
0.08
0.44
rR
0.20
*Genotype 11 indicates the presence of both major alleles; genotype 12, 1 major allele and 1 minor allele; and
ev
iew
On
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
Page 37 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
Supplementary Table 5. tSNP Association (Unadjusted Analysis) and Haplotype Structure in White
nf
Patients*
id
en
tSNP name
tSNP no.
2 df
rs3212657
0.13
rs1645761
rs3756541
White
Haplotype marker
Dom
Rec
0.13
0.06
0.09
0.06
0.17
0.11
0.18
0.28
0.17
tia
Add
0.11
0.07
0.18
0.07
0.03
0.09
0.24
0.44
0.08
0.03
0.02
0.15
0.02
0.09
0.21
0.30
0.45
rs1862639
0.35
0.64
0.38
0.15
0.38
0.20
0.31
0.28
0.29
rs152088
0.24
0.22
0.12
0.14
0.12
0.09
0.06
0.13
0.10
rs3212418
0.09
0.06
0.03
0.09
0.03
0.01
0.10
0.12
0.17
rs989073
0.92
0.70
0.73
0.91
rs1363192
0.01
0.51
0.55
0.01
0.55
rs3212460
0.79
0.59
0.52
0.50
0.40
rs3212476
10
0.54
0.27
0.28
0.62
rs984966
11
0.77
0.78
0.56
rs10513009
12
0.13
0.94
rs2303124
13
0.21
0.08
l:
Fo
rR
ev
0.73
iew
0.80
0.28
0.23
0.45
0.05
0.06
0.13
0.22
0.48
0.15
0.12
0.09
0.28
0.42
0.16
0.66
0.47
0.56
0.68
0.50
0.55
0.05
0.58
0.36
0.14
0.56
0.11
On
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 38 of 56
Co
nf
id
Add, additive; df, degrees of freedom; Dom, dominant; Rec, recessive; tSNP, haplotype-tagging single
nucleotide polymorphism.
en
*tSNPs listed in order of position on the physical map. Haplotype data are reported as empiric P values.
tia
l:
Fo
rR
ev
iew
On
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
Page 39 of 56
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Co
Supplementary Table 6. tSNP Association (Unadjusted Analysis) and Haplotype Structure in Nonwhite
nf
Patients*
id
en
tSNP name
tSNP no.
2 df
rs3212657
0.78
rs1645761
rs3756541
Nonwhite
Haplotype marker
Dom
Rec
0.51
0.49
0.72
0.60
0.04
0.02
0.004
0.004
0.37
tia
Add
0.40
0.21
0.17
0.19
0.06
0.02
0.006
0.02
0.14
0.05
0.05
0.34
0.02
0.06
0.02
0.05
0.30
rs1862639
0.38
0.24
0.17
0.30
0.19
0.04
0.08
0.18
0.20
rs152088
0.26
0.15
0.10
0.21
0.09
0.08
0.15
0.08
0.10
rs3212418
0.10
0.04
0.04
0.28
0.04
0.06
0.02
0.06
0.16
rs989073
0.53
0.78
0.47
0.26
rs1363192
0.34
0.53
0.26
0.14
0.24
rs3212460
0.63
0.34
0.39
0.64
0.17
rs3212476
10
0.62
0.75
0.85
0.43
rs984966
11
0.88
0.87
0.72
rs10513009
12
0.26
0.32
rs2303124
13
0.35
0.28
l:
Fo
rR
ev
0.47
iew
0.13
0.26
0.40
0.09
0.19
0.45
0.12
0.40
0.44
0.47
0.91
0.65
0.86
0.63
0.87
0.49
0.61
0.71
0.82
0.43
0.64
0.36
0.54
0.24
0.46
0.54
0.32
On
ly
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
1
2
3
4
5
6
7
8
9
10
11
12
13
14
15
16
17
18
19
20
21
22
23
24
25
26
27
28
29
30
31
32
33
34
35
36
37
38
39
40
41
42
43
44
45
46
47
48
Page 40 of 56
Co
nf
id
Add, additive; df, degrees of freedom; Dom, dominant; Rec, recessive; tSNP, haplotype-tagging single
en
nucleotide polymorphism.
*tSNPs listed in order of position on the physical map. Haplotype data are reported as empiric P values.
tia
l:
Fo
rR
ev
iew
On
ly
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Supplementary Table 7. Significant Haplotypes Based on 2-, 3-, 4-, 5-tSNP Window Analyses
nf
id
Data)
en
Haplotype marker
tia
tSNP name
tSNP no.
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
rR
T.A.T.C
l:
Fo
OR (95% CI)
C.G
0.04
T.A.T
0.04
ev
0.03
iew
A.T
A.T.C
0.04
0.04
A.T.C.C.T
On
0.04
1.46 (1.12-1.89)
T.C
T.C.C
T.C.C.T
0.03
0.05
0.04
ly
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nf
id
Haplotype marker
en
tSNP name
tSNP no.
rs1862639
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
C.C
rR
tia
l:
0.06
Fo
1.35 (1.09-1.67)
rs152088
C.T
0.06
ev
rs3212418
iew
rs3212460*
1.34 (1.08-1.66)
On
C.C.T.C.T
ly
0.02
1.60 (1.22-2.11)
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nf
id
Haplotype marker
en
tSNP name
tSNP no.
rs3212476
10
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
C.T.C.T
tia
l:
Fo
0.03
rs984966
11
rs10513009
12
rR
rs2303124*
13
1.54 (1.17-2.02)
ev
C.G
C.G.C
0.04
0.04
iew
On
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nf
id
Haplotype marker
en
tSNP name
tSNP no.
rs1645761
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
A.C
A.C.C
rR
iew
tia
l:
0.05
Fo
0.04
C.C
0.06
1.35 (1.09-1.67)
rs152088
C.T
0.06
1.34 (1.08-1.66)
ev
On
ly
CI, confidence interval; OR, odds ratio; tSNP, haplotype-tagging single nucleotide polymorphism.
*Not in Hardy-Weinberg equilibrium.
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
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Supplementary Table 8. Significant Haplotypes Based on 2-, 3-, 4-, 5-tSNP Window Analyses
nf
id
en
tSNP name
tSNP no.
rs3212657
Haplotype marker
2
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
T.A.T
T.A.T.C
rR
0.04
tia
l:
Fo
0.05
A.T.C
0.06
ev
1.45 (1.10-1.91)
rs3756541
iew
C.T.T.C
0.06
A.T.C.C.T
0.06
1.46 (1.11-1.93)
On
rs1862639
ly
rs152088
1.47 (1.11-1.94)
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nf
id
Haplotype marker
en
P value
P value
P value
P value
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
rR
C.C.T.C.T
iew
tia
tSNP name
tSNP no.
rs3212418
rs989073
rs1363192
rs3212460
rs3212476
10
l:
Fo
ev
0.02
1.65 (1.23-2.21)
C.T.C.T
0.04
On
1.52 (1.15-2.03)
rs984966
11
rs10513009
12
ly
rs2303124
13
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483
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CI, confidence interval; OR, odds ratio; tSNP, haplotype-tagging single nucleotide polymorphism.
en
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Supplementary Table 9. Significant Haplotypes Based on 2-, 3-, 4-, 5-tSNP Window Analyses
nf
id
Patients)*
en
Haplotype marker
tia
l:
P value
Fo
P value
P value
P value
tSNP name
tSNP no.
OR (95% CI)
OR (95% CI)
OR (95% CI)
OR (95% CI)
rs3212657
T.A.C.C
T.A.C.C.T
0.03
0.03
rs1645761
rR
A.C
A.C.C
0.06
0.04
ev
iew
A.C.C.T
0.04
rs152088
rs3212418
On
ly
CI, confidence interval; OR, odds ratio; tSNP, haplotype-tagging single nucleotide polymorphism.
*No significant results involving tSNPs not in Hardy-Weinberg equilibrium.
Oregon Health & Science University, 3181 SW Sam Jackson Park Rd, L335, Portland, OR 97239-3098, 503-494-7483