The genetics of chronic obstructive pulmonary disease

Respiratory Research

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).

ISSN: 1465-993X