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Table 2 Single nucleotide polymorphisms (SNPs).

From: Cluster analysis in severe emphysema subjects using phenotype and genotype data: an exploratory investigation

Gene Symbol

SNP

Major/Minor Allele

Minor Allele Frequency

Association in NETT (Effect of Variant Genotype)

Other Reported COPD Association(s)

EPHX1

rs1051740 (Tyr113His)

T/C

0.31

Less maximum work[42]

Associations with discordant directions; meta-analysis with a protective effect of the variant allele[55]

 

rs2234922 (His139Arg)

A/G

0.19

Decreased risk of COPD [9]; Lesser degree of apical minus basilar emphysema [22]; increased DLCO[42], less maximum work after LVRS[56]

Wild type with variant type rs1051740, associated with lung function decline[12]

GSTP1

rs1695 (aka rs947894)

A/G

0.36

Lesser degree of apical and apical minus basilar emphysema [22]

Associations with discordant directions [57]

SERPINE2

rs6734100

C/G

0.15

 

Case-control and family-based; variant less common in cases[28]

 

rs6747096

A/G

0.19

Protection from COPD [27]

 
 

rs975278

C/T

0.20

Decreased apical emphysema [22]

Decreased risk of COPD [28]

SFTPB

rs1130866 (Thr131Ile)

A/G

0.46

Associated with COPD, in the presence of a gene-by- environment interaction[9]; fewer exacerbations[23]

Associated with COPD [9, 58]

 

rs2118177

T/C

0.35

Fewer exacerbations[23]

 
 

rs2304566

T/C

0.25

Fewer exacerbations[23]

 
 

rs3024791

C/T

0.16

Fewer exacerbations[23]

 

TGFB1

rs1800470 (aka rs1982073) (Leu10Pro)

A/G

0.39

Decreased risk of COPD [59]; lower FEV1 within emphysema subjects[48]; increased apical emphysema[22]; decreased airway wall thickness (unpublished observations)

Decreased risk of COPD[60, 61]

 

rs1800469

G/A

0.30

Decreased risk of COPD[59]; lower FEV1 within emphysema subjects[48]; greater dyspnea symptoms [42]; increased apical emphysema[22]

 
  1. Twelve SNPs from nine candidate genes were chosen based on available genotyping and previous associations.