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Chronic obstructive pulmonary disease is a heterogeneous disease caused by the interaction …

Biology Articles » Genetics » Clinical Genetics » The genetics of chronic obstructive pulmonary disease » Tables

Tables
- The genetics of chronic obstructive pulmonary disease

Table 1
Protease-antiprotease interactions
Proteinase
 Class
 Activity
 Active antiproteases
Neutrophil elastase
 Serine
 Degrades elastin, collagen type IV & laminin
 AAT


Inactivates TIMP
 SERPINA3


Activates MMP9
 SLPI
Cathepsin G
 Serine
 Degrades elastin, collagen I, II, IV & laminin
 SERPINA3


Activates MMP9
 SLPI
Proteinase 3
 Serine
 Degrades elastin & collagen IV
 AAT


Activates TNFα
Cathepsin B
 Cysteine
 Degrades elastin
 Cystatin C


Inactivates secretory leukocyte proteinase inhibitor (SLPI)
MMP1
 MMP
 Degrades collagens I-IV, VII, VIII, X, XI
 TIMP1-4


Inactivates AAT


Activates TNFα
MMP9
 MMP
 Degrades collagen IV, V, X, XIV & elastin
 TIMP1-4


Inactivates AAT


Activates TNFα & TGFβ
MMP12
 MMP
 Degrades collagen I, IV, elastin & fibrillin
 TIMP1-4


Inactivates AAT


Activates TNFα
Table 2
Some genetic polymorphisms relevant in COPD
Gene/Protein
 Polymorphism ID
 Gene ID
 Role
 Function
MMP9
 CR994492*
 4318
 C-1562T
 Increases promoter activity
MMP1
 rs1799750
 4312
 G-1607GG
 Increases transcription
MMP12
4321
 Asn357Ser
TIMP2
 rs2277698
 7077
 G853A



G-418C
SERPINA3
 rs4934
 12
 Ala-15Thr
 Alters signal peptide

rs17473
Pro227Ala
 Reduces enzyme level

rs1800463
Leu55Pro
 Reduces enzyme level
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
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
GC
 rs4588
 2638
 Thr436Lys
 Decreases conversion to MAF

rs7041
Asp432Glu
IL13
3596
 C-1055T
 Increases IL13 production
SFTPB
 rs1130866
 6439
 Thr131Ile
SFTPB
 D2S388**
(CA)n
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).

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