Genetic polymorphisms and susceptibility to lung disease

Lee, Pauline L; West, Carol; Crain, Karen; Wang, Lei

doi:10.1186/1477-5751-5-5

Journal of Negative Results in BioMedicine

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.

From: Genetic polymorphisms and susceptibility to lung disease

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

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ISSN: 1477-5751

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