Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12in a European population

Haq, Imran; Chappell, Sally; Johnson, Simon R; Lotya, Juzer; Daly, Leslie; Morgan, Kevin; Guetta-Baranes, Tamar; Roca, Josep; Rabinovich, Roberto; Millar, Ann B; Donnelly, Seamas C; Keatings, Vera; MacNee, William; Stolk, Jan; Hiemstra, Pieter S; Miniati, Massimo; Monti, Simonetta; O'Connor, Clare M; Kalsheker, Noor

doi:10.1186/1471-2350-11-7

Table 4 SNPs selected for genotyping

From: Association of MMP - 12 polymorphisms with severe and very severe COPD: A case control study of MMPs - 1, 9 and 12in a European population

SNP No.	Gene	Locus	tagged SNPs	Location in Gene	Contig position	Major/Minor allele
1	MMP-1	rs2071230	rs7125320	3' UTR	18098075	A/G
				Intronic	18095326	G/T
2	MMP-1	rs2239008	rs2071232	3' UTR	18097954	G/A
			rs996999	Intronic	18093365	T/C
				Intronic	18091971	C/T
3	MMP-1	rs470215	rs5854	3' UTR	18097935	A/G
			rs470747	3' UTR	18098160	C/T
			rs470132	Intronic	18097439	T/C
				Intronic	18092477	G/T
4	MMP-1	rs1938901	rs5031036	Intronic	18097369	C/T
5	MMP-1	rs17881293		Intronic	18096568	A/G
6	MMP-1	rs17884110		Intronic	18095557:18095558	-/C
7	MMP-1	rs17878931		Intronic	18092379	C/A
8	MMP-1	rs10488		Exonic	18091012	G/A
				Intronic	18092870	A/G
9	MMP-1	rs470358	rs505770	Intronic	18090333	C/T
10	MMP-1	rs3213460	rs476391	5'UTR	18090153	G/A
11	MMP-1	rs514921	rs644552	Promoter	18089805	A/G
12	MMP-1	rs498186	rs651159	Promoter	18089390	A/C
13	MMP-1	rs1799750	rs662028	Promoter	18088538:18088539	-/G
14	MMP-12	rs652438		Exonic (Asn357Ser)	18022346	A/G
				Intronic	18024778	T/A
				Intronic	18023958	G/C
				Intronic	18023848	G/A
				Intronic	18022569	A/G
				Intronic	18018358	A/G
15	MMP-12	rs632009	rs7123600	Intronic	18020490	C/T
			rs10895367	Intronic	18017018	A/G
16	MMP-12	rs11225442		Intronic	18019669	G/A
				Intronic	18013855	G/C
17	MMP-12	rs28381675	rs28381684	Intronic	18018010	A/G
18	MMP-12	rs2276109	rs17368582	Upstream	18013194	A/G
			rs17368659	Intronic	18021796	T/A
				Exonic	18020914	T/C
				Intronic	18016225	G/T
19	MMP-9	rs3918262	rs3787268	Intronic	7706054	A/G
				Intronic	7704015	G/A
20	MMP-9	rs13969	rs20544	Exonic	7705117	C/A
21	MMP-9	rs2250889	rs3918251	Exonic (Pro574Arg)	7704690	C/G
22	MMP-9	rs3918256	rs3918253	Intronic	7703243	A/G
			rs8113877	3' UTR	7707164	C/T
				Intronic	7701053	A/G
				Intronic	7701795	T/C
				Upstream	7697335	T/G
23	MMP-9	rs17576	rs3918249	Exonic (Gln279Arg)	7702509	A/G
			rs3918240	Intronic	7700408	C/T
			rs6965913	Upstream	7697906	C/T
				Upstream	7697393	C/T
24	MMP-9	rs2274755	rs3918242	Intronic	7701976	G/T
			rs13925	Promoter	7968266	C/T
			rs3918261	Exonic	7707119	G/A
			rs17577	Intronic	7705876	A/G
				Exonic (Arg668Gln)	7705395	G/A
			rs2236416	Intronic	7702859	A/G
			rs3918241	Upstream	7698025	T/A
25	MMP-9	rs3918278		Upstream	7697944	G/A
26	MMP-9	rs11697325		Upstream	7691635	A/G

SNPs are shown in 3' to 5' order. Contig Position numbering is relative to HuRef NCBI build 36.3. SNPs 6 and 13 (rs numbers 17884110 and 1799750 respectively) represent an insertion/deletion polymorphism. Amino acid changes are shown where present.

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ISSN: 1471-2350

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