Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17576
rs17576
CUI: C0007134
Disease: Renal Cell Carcinoma
Renal Cell Carcinoma
0.010 GeneticVariation BEFREE The present results suggest that MMP9 R279Q polymorphism has influence on the malignant potential of RCC. 16466849

2006

dbSNP: rs17576
rs17576
Conventional (Clear Cell) Renal Cell Carcinoma
0.010 GeneticVariation BEFREE The present results suggest that MMP9 R279Q polymorphism has influence on the malignant potential of RCC. 16466849

2006

dbSNP: rs17576
rs17576
CUI: C0518948
Disease: Chlamydia trachomatis infection
Chlamydia trachomatis infection
0.010 GeneticVariation BEFREE The Q279R mutation located in exon 6 of MMP9 was found to be associated with lower risk for severe disease sequelae of ocular Chlamydia trachomatis infection. 16643654

2006

dbSNP: rs1430059719
rs1430059719
CUI: C0239946
Disease: Fibrosis, Liver
Fibrosis, Liver
0.010 GeneticVariation BEFREE Moreover, adenoviral application of the mutants MMP-9-H401A and -E402Q led to increased apoptosis of activated hepatic stellate cells, thought to be the main promoters of hepatic fibrosis. 16507762

2006

dbSNP: rs2250889
rs2250889
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation BEFREE However, after adjustment for age, sex, phenotypic index, moles, and freckles only Q279R, P574R and R668Q had significant associations with intransit metastasis, propensity to tan/sunburn and primary melanoma site. 17346338

2007

dbSNP: rs17577
rs17577
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.020 GeneticVariation BEFREE However, after adjustment for age, sex, phenotypic index, moles, and freckles only Q279R, P574R and R668Q had significant associations with intransit metastasis, propensity to tan/sunburn and primary melanoma site. 17346338

2007

dbSNP: rs17577
rs17577
CUI: C0025202
Disease: melanoma
melanoma
0.010 GeneticVariation BEFREE However, after adjustment for age, sex, phenotypic index, moles, and freckles only Q279R, P574R and R668Q had significant associations with intransit metastasis, propensity to tan/sunburn and primary melanoma site. 17346338

2007

dbSNP: rs2664538
rs2664538
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.020 GeneticVariation BEFREE This study did not find an association between the rs2664538 polymorphism within the MMP-9 gene and PACG in this sample of Chinese subjects. 18552608

2008

dbSNP: rs2664538
rs2664538
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.020 GeneticVariation BEFREE This study did not find an association between the rs2664538 polymorphism within the MMP-9 gene and PACG in this sample of Chinese subjects. 18552608

2008

dbSNP: rs17576
rs17576
CUI: C0281899
Disease: Prolapsed lumbar disc
Prolapsed lumbar disc
0.020 GeneticVariation BEFREE Further, a missense SNP in MMP9 (Q279R; rs17576) is also strongly associated with LDH in the Japanese population (p = 0.00049) and shows a combinatorial effect with THBS2 (odds ratio 3.03, 95% confidence interval 1.58-5.77). 18455130

2008

dbSNP: rs3918242
rs3918242
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.010 GeneticVariation BEFREE Four SNPs of MMP-9, rs3918242 in the promoter region and 3 nonsynonymous coding SNPs (rs3918252, rs17576, and rs2250889) were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis in 58 white patients for whom there was a clinical suspicion of GCA. 18512818

2008

dbSNP: rs2250889
rs2250889
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE Our study</span> shows for the first time that MMP-9 gene P574R polymorphism may contribute to a genetic risk factor for ESCC in a Chinese population. 18680431

2008

dbSNP: rs2250889
rs2250889
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.010 GeneticVariation BEFREE These data derived from a sample of patients with GCA suggest that the G allele of MMP-9 polymorphism rs2250889 is overrepresented in patients with histologically confirmed GCA. 18512818

2008

dbSNP: rs17577
rs17577
CUI: C0007137
Disease: Squamous cell carcinoma
Squamous cell carcinoma
0.010 GeneticVariation BEFREE This study provides evidence for the contribution of the MMP9 Arg668Gln to SCC development. 19064570

2008

dbSNP: rs17576
rs17576
Squamous cell carcinoma of esophagus
0.010 GeneticVariation BEFREE MMP-9 P574R polymorphisms and P574R-R279Q haplotype are significantly associated with the risk of ESCC. 18680431

2008

dbSNP: rs17576
rs17576
CUI: C0039483
Disease: Giant Cell Arteritis
Giant Cell Arteritis
0.010 GeneticVariation BEFREE Four SNPs of MMP-9, rs3918242 in the promoter region and 3 nonsynonymous coding SNPs (rs3918252, rs17576, and rs2250889) were genotyped by polymerase chain reaction-restriction fragment length polymorphism analysis in 58 white patients for whom there was a clinical suspicion of GCA. 18512818

2008

dbSNP: rs17576
rs17576
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.060 GeneticVariation BEFREE The aim of this study was to analyze the occurrence of the -1612 5A/6A, -376C/G, and Glu45Lys polymorphisms of MMP3 and the -1562C/T and R279Q polymorphisms of MMP9 and their relation to the risk of coronary heart disease (CHD; stenosis >/=50% of the diameter in at least one major coronary artery) in a Chinese Han population. 19438845

2009

dbSNP: rs17576
rs17576
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.050 GeneticVariation BEFREE In contrast, the SNP rs17576 in MMP-9 might not be related to PACG in the same population. 19633731

2009

dbSNP: rs17576
rs17576
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.050 GeneticVariation BEFREE In contrast, the SNP rs17576 in MMP-9 might not be related to PACG in the same population. 19633731

2009

dbSNP: rs17576
rs17576
CUI: C0010068
Disease: Coronary heart disease
Coronary heart disease
0.030 GeneticVariation BEFREE The aim of this study was to analyze the occurrence of the -1612 5A/6A, -376C/G, and Glu45Lys polymorphisms of MMP3 and the -1562C/T and R279Q polymorphisms of MMP9 and their relation to the risk of coronary heart disease (CHD; stenosis >/=50% of the diameter in at least one major coronary artery) in a Chinese Han population. 19438845

2009

dbSNP: rs2250889
rs2250889
CUI: C0017606
Disease: Primary angle-closure glaucoma
Primary angle-closure glaucoma
0.020 GeneticVariation BEFREE The SNP rs2250889 located in MMP-9 might be associated with PACG among southern Chinese people, and people with the G/G genotype are likely more susceptible to PACG. 19633731

2009

dbSNP: rs2250889
rs2250889
CUI: C0017605
Disease: Angle Closure Glaucoma
Angle Closure Glaucoma
0.020 GeneticVariation BEFREE The SNP rs2250889 located in MMP-9 might be associated with PACG among southern Chinese people, and people with the G/G genotype are likely more susceptible to PACG. 19633731

2009

dbSNP: rs17576
rs17576
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.020 GeneticVariation BEFREE In the two-locus haplotype analyses using the four single nucleotide polymorphisms (SNPs), an increase in the distribution of the R279Q/P574R (2678G>A/4859C>G) (AC haplotype: odds ratio [OR] = 3.180, 95% confidence interval [CI] = 1.956-5.170; GG haplotype: OR = 4.374, 95% CI = 2.376-8.053) and -1562C>T/R668Q (-1562C>T/5546G>A) (CA haplotype: OR = 3.280, 95% CI = 1.406-7.653) haplotypes was significantly associated with endometriosis. 18554596

2009

dbSNP: rs3918242
rs3918242
CUI: C0409959
Disease: Osteoarthritis, Knee
Osteoarthritis, Knee
0.010 GeneticVariation BEFREE The MMP-1 -1,607 1G/2G (rs1799750), MMP-2 -1,306 C/T (rs243865), and MMP-9 -1,562 C/T (rs3918242) polymorphisms were determined by polymerase chain reaction-restriction fragment length polymorphism assay in 157 patients diagnosed with knee osteoarthritis based on the criteria of American College of Rheumatology and in 84 controls in Mersin, Turkey. 18802702

2009

dbSNP: rs2250889
rs2250889
CUI: C0014175
Disease: Endometriosis
Endometriosis
0.010 GeneticVariation BEFREE In the two-locus haplotype analyses using the four single nucleotide polymorphisms (SNPs), an increase in the distribution of the R279Q/P574R (2678G>A/4859C>G) (AC haplotype: odds ratio [OR] = 3.180, 95% confidence interval [CI] = 1.956-5.170; GG haplotype: OR = 4.374, 95% CI = 2.376-8.053) and -1562C>T/R668Q (-1562C>T/5546G>A) (CA haplotype: OR = 3.280, 95% CI = 1.406-7.653) haplotypes was significantly associated with endometriosis. 18554596

2009