Table 3

Summary of SNP Analyses. SNP analyses of candidate genes in lung disease versus control groups. Numbering of SNPs start from the ATG initiator methionine of the cDNA. Data are presented as number of alleles identified divided by total number of alleles examined. Numbers within parentheses are the calculated allele frequencies. Power calculations were performed using number of subjects.
p67phox (NCF2)
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 6
 rs2274064
 542 A/G
 K181R
 79/186 (0.43)
 91/190 (0.48)
 0.98
 0.96
Exon 9
 rs13306581
 836 C/T
 T279M
 0
 0

Exon 11
983 G/A
 R 328K
 0
 0

Exon 13
1105 G/A
 G369R
 0
 0

Exon 13
 rs17849502
 1167 C/A
 H389Q
 12/190 (0.06)
 10/188 (0.05)
 0.22
Exon 14
 rs13306575
 1183 C/T
 R395W
 0
 0

p22phox (CYBA)
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 2
85 A/G
 T29A
 0
 0

Exon 2
113 T/C
 F38S
 0
 0

Exon 3
179 A/C
 K60S
 4/190 (0.02)
 0
 0.06
Exon 4
 rs4673
 214 C/T
 H72Y
 61/180 (0.34)
 60/190 (0.37)
 0.99
 0.61
Exon 6
403 G/A
 E135K
 0
 0

Exon 6
 rs17845095
 521 C/T
 A174V
 93/176 (0.41)
 88/190 (0.46)
 0.99
 0.79
p40phox (NCF4)
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 2
 rs13057803
 86 T/C
 I29T
 0
 0

Exon 5
 rs9610595
 353 G/A
 S118N
 0
 0

Exon 8
815 G/A
 P272L
 30/190 (0.16)
 29/190 (0.15)
 0.68
 0.22
Exon 10
 rs5995361
 911 C/A
 A304E
 0
 0

gp91phox (CYBB)
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 9
 rs28935182
 907 C/A
 H303N
 0
 0

Exon 11
 rs13306300
 1414 G/A
 G472S
 0
 0

Exon 12
 rs28935181
 1499 A/G
 D500G
 0
 0

Duox 1
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 27
 rs2458236
 3532 T/C
 F1178L
 64/184 (0.35)
 56/154 (0.36)
 0.99
 0.63
Exon 28
 rs2292466
 3647 G/A
 R1216H
 0
 0

Duox 2
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 5
 rs2001616
 413 C/T
 P138L
 26/188 (0.14)
 22/190 (0.12)
 0.59
Exon 5
 rs7166994
 429 C/A
 D143E
 0
 0

Exon 6
 rs2467827
 598 G/A
 G200R
 1/188 (0.01)
 1/190 (0.01)
 0.05
Exon 17
 rs8028305
 2048 G/A
 R683H
 0
 0

Exon 24
 rs2277611
 3026 G/A
 A1009Q
 0
 0

Exon 25
 rs269868
 3200 T/C
 L1067S
 22/186 (0.12)
 15/190 (0.08)
 0.5
TLR2
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 2
 rs3840097
 510Tdel
 F170Lfs
 0
 0

Exon 2
 rs5743699
 1232C/T
 T411I
 nd
 0

Exon 2
 rs5743702
 1667T/C
 I556T
 nd
 0

Exon 2
 rs5743703
 1736G/A
 R579H
 nd
 0

Exon 2
 rs5743704
 1892C/A
 P631H
 9/184 (0.05)
 8/188 (0.04)
 0.18
Exon 2
2029C/T
 R677W
 nd
 0

Exon 2
 rs5743706
 2143T/A
 Y715N
 nd
 0

Exon 2
 rs5743707
 2145T/G
 Y715Stop
 nd
 0

Exon 2
 rs5743708
 2258G/A
 R753Q
 2/182 (0.01)
 4/188 (0.02)
 0.05
Exon 2
2304G/T
 E768D
 nd
 0

TLR9
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 2
 rs5743842
 13 C/T
 R5C
 2/190 (0.01)
 0
 0.05
Exon 2
 rs5743843
 237T/G
 H79Q
 0
 0

Exon 2
 rs5743844
 296 C/T
 P99L
 0
 0

Exon 2
 rs5743845
 2588 G/A
 R863Q
 6/170 (0.04)
 0/186 (0*)
 0.14
Exon 2
 rs5743746
 2644 G/A
 A882T
 0
 0

AAT (SERPINA1)
 dbSNP rs#
 SNP
 amino acid
 Control
 Lung Disease
 Power to detect 2× increase
 Power to detect 1.5× increase
Exon 2
 rs709932
 374G/A
 R125H
 38/178 (0.21)
 29/182 (0.16)
 0.85
 0.31
Exon 3
 rs17580
 863A/T
 E288V
 5/190 (0.03)
 4/190 (0.02)
 0.1
Exon 4
 rs28929474
 1096G/A
 E366K
 4/192 (0.02)
 2/190 (0.01)
 0.07

Lee et al. Journal of Negative Results in BioMedicine 2006 5:5   doi:10.1186/1477-5751-5-5

Open Data