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 |
|
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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.