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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]
  1. *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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Genome Medicine

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