Chronic obstructive pulmonary disease: towards pharmacogenetics

Wood, Alice M; Tan, See Ling; Stockley, Robert A

doi:10.1186/gm112

Table 2 Genetic associations of COPD

From: Chronic obstructive pulmonary disease: towards pharmacogenetics

Gene*	Descriptors†		Function	COPD phenotype	References
*CHRNA3/5*	rs8034191 rs1051730			Airflow obstruction with low FEV1; FEV1 decline	[33]
*EPHX1*	rs1051740 rs2234922	Tyr213His His139Arg	Enzyme activity ↓ Enzyme activity ↑	Emphysema; UZDE; FEV1 decline	[9, 41, 86–90]
GC	rs4588 rs7041	Thr436Lys Asp432Glu	Conversion to MAF ↓	Emphysema; airflow obstruction with low FEV1; FEV1 decline	[91–93]
GSTM1	Gene deletion	Null	No protein	Emphysema; chronic bronchitis	[94–96]
*GSTP1*	rs947894	Ile105Val	Enzyme activity ↑	UZDE; airflow obstruction with low FEV1; FEV1 decline	[9, 40, 95, 97–99]
*HHIP*	rs1828591 rs13118928			Airflow obstruction with low FEV1; FEV1 decline	[33, 39]
HMOX1	Microsatellite in promoter	GT(n)	Gene transcription ↑ Enzyme activity ↓	Emphysema; airflow obstruction with low FEV1; FEV1 decline	[100, 101]
*IL1RN*	VNTR tandem repeat			COPD	[40]
MMP1	rs1799750	G-1607GG	Gene transcription ↑	UZDE; FEV1 decline	[9]
MMP9	rs3918242	C-1562T	Gene transcription ↑	UZDE; airflow obstruction with low FEV1	[10, 102, 103]
SERPINA3	rs4934 rs17473 rs1800463	Ala-15Thr Pro227Ala Leu55Pro	Altered protein Protein level ↓ Protein level ↓	Altered airway resistance	[104, 105]
*SERPINE2*	Various	N/A	N/A	Airflow obstruction with low FEV1	[37, 47]
SOD3	rs1799895	Arg213Gly	Protein level ↑	Airflow obstruction with low FEV1	[23]
SFTPB	rs1130866 rs2118177	Thr131Ile	Altered protein	Airflow obstruction with low FEV1; dyspnoea in emphysema; exacerbation frequency	[86, 87, 106]
*TGFB*	rs1800469 rs1982073	C-509T C613T	Protein level ↑ Protein level ↑	Airflow obstruction with low FEV1; dyspnoea in emphysema	[40, 87, 107]
*TNFA*	rs1800629	G-308A	Protein level ↑	Emphysema; chronic bronchitis; airflow obstruction with low FEV1	[40, 42, 108–110]

*Genes with evidence of an effect at genome-wide, meta-analysis or post-Bonferroni-correction level are in bold. ^†Most modern studies report these associations using the reference SNP number (rs...), but older studies often refer to the nucleotide change, whose nomenclature lists the more common allele, followed by the position of the SNP within the gene, and then the least common allele. For example, for TNFA, G-308A refers to a polymorphism at position -308 in the gene, which changes a G (guanine) residue to an A (adenine). The negative position indicates that it is in the promoter region. Alternatively, a SNP might be described by the effect it has on its protein product. This follows a similar system to that of nucleotide changes, such that, for example, in SOD3 Arg213Gly indicates a change from an arginine to a glycine residue at position 213 within the protein. Where such descriptors are common in the literature, both the rs number and these are shown. Abbreviations: GC, vitamin D binding protein; HMOX1, heme oxygenase; SFTPB, surfactant protein B; SOD, superoxide dismutase; TGFB, transforming growth factor β; UZDE, upper zone dominant emphysema.

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ISSN: 1756-994X

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