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. Author manuscript; available in PMC: 2013 Jun 3.
Published in final edited form as: Circ Cardiovasc Genet. 2012 Aug 31;5(5):529–537. doi: 10.1161/CIRCGENETICS.112.963082

Table 1. Selected MMP-9 Single Nucleotide Polymorphisms Investigated.

Heterozygosity

Name rs# ID SNP Mutation October 2010 January 2012 Domain Protein Secretion Total Enz.
Activity
Promoter Activity

A20V rs1805088 C>T Ala>Val 0.057 0.051 Sig.pept. Down
N38S rs41427445 A>G Asn>Ser 0.133 0.023 Propep.N-glyco. Down Down
E82K rs1805089 G>A Glu>Lys N.D. 0.000 Propep. Down Down
D165N* rs8125581 G>A Asp>Asn N.D. 0.002 Catalytic Down Down
L187F rs55789927 C>T Leu>Phe N.D. 0.001 Catalytic Down
T258I rs41529445 C>T Thr>IIe 0.039 0.003 Catalytic
R279Q rs17576 G>A Arg>GIn ND 0.440 Catalytic Up
P574R rs2250889 C>G Pro>Arg 0.293 0.213 Hemopexin Down
R668Q rs17577 G>A Arg>Gln 0.287 0.280 Hemopexin Up
p-1562 rs3918242 C>T 0.288 0.290 Promoter Up
p-1702 rs3918241 T>A 0.258 0.249 Promoter Down
p-2024 rs6104421 C>T 0.146 0.151 Promoter
p-2118 rs3918240 C>T 0.470 0.463 Promoter Up
p-2502* rs8113877 G>T 0.423 0.426 Promoter Down

MMP-9 indicates matrix metalloproteinase-9; SNP, single nucleotide polymorphism; Total enz. activity, total enzymatic activity; Sig. pept, signal peptide; Propep, propeptide; N-glyco, N-linked glycosylation; and ND, no data.

The common nomenclature used in our study denoting the amino acids changed for the exon SNPs and the location of the SNPs with respect to the start ATG for the promoter SNPs.

*

Indicates the 2 SNPs that were used in the final logistic-regression model. The SNP heterozygosity column lists the numbers available through NCBI at the time of initiation of this study (2010) and the numbers listed at the most recent access (2012). Domain lists the functional domain of the gene where the SNPs are located. Protein secretion, total nz. activity, and promoter activity, lists the functional consequences of the SNPs.