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Some genetic polymorphisms relevant in COPD |
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| Gene/Protein |
Polymorphism ID |
Gene ID |
Role |
Function |
|
|
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| MMP9 |
CR994492* |
4318 |
C-1562T |
Increases promoter activity |
| MMP1 |
rs1799750 |
4312 |
G-1607GG |
Increases transcription |
| MMP12 |
4321 |
Asn357Ser |
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| TIMP2 |
rs2277698 |
7077 |
G853A |
|
| G-418C |
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| SERPINA3 |
rs4934 |
12 |
Ala-15Thr |
Alters signal peptide |
| rs17473 |
Pro227Ala |
Reduces enzyme level |
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| rs1800463 |
Leu55Pro |
Reduces enzyme level |
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| GSTP1 |
rs947894 |
2950 |
Ile105Val |
Increased enzyme activity |
| GSTM1 |
CG931302* |
2944 |
Null |
No enzyme activity |
| SOD3 |
CM941295* |
6649 |
Arg213Gly |
Increases enzyme level |
| EPHX1 |
rs1051740 |
2052 |
Tyr213His |
Reduces enzyme activity |
| rs2234922 |
His139Arg |
Increases enzyme activity |
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| HMOX1 |
CE000297* |
3162 |
(GT)n |
Alters transcription |
| TNFα |
rs1800629 |
7124 |
A-308G |
Increases TNFα level |
| TGFβ |
rs1800469 |
7040 |
C-509T |
Increases TGFβ level |
| rs1982073 |
C613T |
Increases TGFβ level |
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| GC |
rs4588 |
2638 |
Thr436Lys |
Decreases conversion to MAF |
| rs7041 |
Asp432Glu |
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| IL13 |
3596 |
C-1055T |
Increases IL13 production |
|
| SFTPB |
rs1130866 |
6439 |
Thr131Ile |
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| SFTPB |
D2S388** |
(CA)n |
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Polymorphism ID: if listed in Entrez SNP [132], the reference SNP (rs) number is given. *indicates an accession number from the Human gene mutation database [133]. ** is searchable from PubMed, but not Entrez SNP. Gene ID: from Entrez Gene [134]. Role This indicates the alteration and location of the nucleotide polymorphism (e.g. G853A, meaning a G→A substitution at position +853) or shows the change that results in the amino acid sequence (e.g. Ile105Val, meaning a change from Ile→Val at position 105 within the protein). Microsatellites are denoted (xx). | ||||
Wood and Stockley Respiratory Research 2006 7:130 doi:10.1186/1465-9921-7-130 |
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