Download Table 1S: Characteristics of 1017 COPD patients according to GOLD... disease severity GOLD Classification

Table 1S: Characteristics of 1017 COPD patients according to GOLD classification of
disease severity
GOLD Classification
Moderate – II Severe – III Very Severe - IV
Male (%)
74.9
66.8
67.6
Age (yr)
66.1±8.0
66.7±0.8.4
64.3±8.0
Smoking pack years*
49.3±21.2
48.3±22.4
48.5±25.9
% pred FEV1
60.2±5.9
39.9±5.8
23.4±4.4
FEV1/FVC
57.2±7.9
45.9±9.8
36.1±9.4
N
358
418
241
P -value
0.0344
0.0019
0.8042
<0.0001
<0.0001
Values indicated are means ± SD. Smoking pack years missing for 3, 2 and 1 persons per
respective classification.
1
Table 2S: Location and nucleotide substitution of SNPs identified in the EPHX1 gene.
Numbering is shown relative to the transcription start site, as well as with respect to
GenBank sequence AF253417.1. (SNPs included in final analysis are denoted with *)
Location
No. relative to
transcription
start site
5’ flanking region -699
5’ flanking region -613
5’ flanking region* -399
5’ flanking region* -362
5’ flanking region* -290
5’ flanking region -200
Exon 1 (5’ UTR)
66
Exon 1 (5’ UTR)
154
Intron 2
6389
Exon 3*
6651
Exon 3
6671
Intron 3
6792
Exon 4*
13426
Intron 4
13636
Exon 6
14567
Exon 6
14678
Exon 8
19241
Intron 8
19540
Intron 8
19541
Exon 9 (3’ UTR)* 20094
3’ flanking region 20449
3’ flanking region 20486
3’ flanking region 20656
3’ flanking region 20934
3’ flanking region 20981
Base
Change
dbSNP
reference
C/T
C/T
C/T
G/A
G/T
T/C
G/A
G/A
G/T
T/C
G/A
C/G
A/G
G/A
C/T
C/T
C/T
G/T
C/A
A/C
G/A
A/G
T/A
G/T
G/A
rs2854447
rs2854448
rs2854450
rs2854451
rs3753658
rs3753660
rs3738040
---rs3817268
rs1051740
rs2292566
rs2260863
rs2234922
rs2292567
rs34143170
rs2292568
rs1051741
rs45467394
rs4149227
rs4653695
rs45616640
rs6965
rs3738050
rs45505095
rs2740174
2
No.
relative
to contig
10325
10411
10625
10662
10734
10824
11089
11177
17411
17673
17693
17814
24448
24658
25589
25700
30263
30562
30563
31116
31471
31508
31678
31956
32003
Coding
Change
------------------------Tyr 113 His
119 Lys
---His 139 Arg
---247 His
284 Pro
357 Asn
----------------
Table 3S: Location and nucleotide substitution of SNPs identified in the GCL catalytic
and modifier subunits. (SNPs included in final analysis are denoted with *)
GCL catalytic subunit (AY780794.1)
Location
No. relative to
transcription start
site
5’ flanking region*
-129
Intron 3*
24434
Intron 7*
36138
Intron 9*
37764
Intron 11*
39514
3’ flanking region
47920
GCL modifier subunit (AY773965.1)
Location
No. relative to
translation start
site
5’ flanking region*
-590
Exon 1
-23
Intron 1
144
Intron 3*
7623
Intron 6*
14613
Exon 7
20081
Base
Change
dbSNP
reference
No. relative
to contig
C/T
G/A
G/A
A/G
G/A
G/C
rs17883901
rs2100375
rs16883912
rs1555903
rs524553
rs1901773
(C/G/T
alleles in
database)
1784
26353
38060
39692
41442
49851
Base
Change
dbSNP
reference
No. relative
to contig
C/T
G/T
C/T
C/T
G/T
G/A
rs41303970
rs743119
rs2273406
rs7515191
rs17884888
rs35267053
1630
2201
2367
9847
16849
22320
3
Table 4S: EPHX1 Phenotype frequencies and disease severity in COPD patients
Phenotype
Normal
Slow
Fast
N*
Moderate (GOLD 2)
0.45
0.35
0.20
350
Severe (GOLD 3)
0.46
0.35
0.20
411
Very Severe (GOLD 4)
0.45
0.34
0.21
238
*Numbers differ to those in Table 1S as there are some individuals with missing
genotypes
4
Table 5SA: Linkage Disequilibrium correlation coefficients for GCL in COPD Patients
GCL catalytic subunit
SNP Nos.
2c
1c
0.001
2c
3c
4c
GCL modifier subunit
SNP Nos.
2m
1m
0.565
2m
3c
0.146
0.186
4c
0.063
0.284
0.102
5c
0.033
0.724
0.179
0.155
3m
0.734
0.798
Table 5SB: Linkage Disequilibrium correlation coefficients for GCL in Controls
GCL catalytic subunit
SNP Nos.
2c
1c
0.017
2c
3c
4c
GCL modifier subunit
SNP Nos.
2m
1m
0.695
2m
3c
0.019
0.206
4c
0.024
0.288
0.112
3m
0.788
0.856
5
5c
0.041
0.835
0.146
0.136
Table 6SA: Linkage Disequilibrium correlation coefficients for EPHX1 in COPD
Patients
SNP Nos.
1
2
3
4
5
2
0.301
3
0.217
0.211
4
0.093
0.201
0.129
5
0.011
0.098
0.100
0.005
6
0.082
0.051
0.096
0.136
0.201
Table 6SB: Linkage Disequilibrium correlation coefficients for EPHX1 in Controls
SNP Nos.
1
2
3
4
5
2
0.293
3
0.219
0.258
4
0.158
0.183
0.093
6
5
0.089
0.154
0.141
0.012
6
0.080
0.007
0.058
0.157
0.182