Source: BEFREE

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs17859821
rs17859821
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease
0.010 GeneticVariation BEFREE Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. 26597259

2016

dbSNP: rs2285053
rs2285053
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.020 GeneticVariation BEFREE In this study, the role of MMP2 promoter C-1306T (rs243865) and C-735T (rs2285053) genotypes were investigated among 208 NPC patients and 416 healthy controls, and their role in NPC staging and TNM classifications were examined. 31243109

2019

dbSNP: rs2285053
rs2285053
CUI: C2931822
Disease: Nasopharyngeal carcinoma
Nasopharyngeal carcinoma
0.020 GeneticVariation BEFREE We observed significantly increased susceptibility to NPC for the MMP2 -1306CC (rs243865:C>T) (odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.30-3.10) and -735CC (rs2285053:C>T) (OR = 1.56, 95% CI = 1.17-2.09) genotype carriers compared with noncarriers in the Guangxi population. 17607721

2007

dbSNP: rs2285053
rs2285053
CUI: C0275544
Disease: Congenital infectious disease
Congenital infectious disease
0.010 GeneticVariation BEFREE Logistic regression analysis showed that mutations in rs11244787 and rs1871054 (in ADAM12) and rs243866, rs17859821, and rs2285053 (in MMP2) were associated with susceptibility to congenital infection. 26597259

2016

dbSNP: rs2285053
rs2285053
CUI: C0745130
Disease: Resistant hypertensive disorder
Resistant hypertensive disorder
0.010 GeneticVariation BEFREE Genetic polymorphisms in matrix metalloproteinase 2 (MMP-2) gene [-1575G/A (rs243866); -1306C/T (rs243865); and -735C/T (rs2285053)] are associated with several CV conditions, however the relationship between MMP-2 polymorphisms and resistant hypertension (RH) is unknown. 28390988

2017

dbSNP: rs2285053
rs2285053
CUI: C0027651
Disease: Neoplasms
Neoplasms
0.010 GeneticVariation BEFREE In addition, rs2285053 was negatively associated with triple negativity, tumor size, distance metastasis, molecular type, and chemotherapy. 31014197

2019

dbSNP: rs2285053
rs2285053
CUI: C1332977
Disease: Childhood Leukemia
Childhood Leukemia
0.010 GeneticVariation BEFREE This study aimed to determine the role of MMP-2 promoter -1306 (rs243865) and -735 (rs2285053) genotypes in childhood leukemia risk. 30842148

2019

dbSNP: rs2285053
rs2285053
CUI: C2362324
Disease: Pediatric Obesity
Pediatric Obesity
0.010 GeneticVariation BEFREE We investigated whether traditional MRFs and two MMP-2 gene polymorphisms (C(-1306)T; rs243865, and C(-735)T; rs2285053) affect circulating MMP-2 levels in children and adolescents, and whether MMP-2 polymorphisms and/or haplotype are associated with susceptibility to childhood obesity. 23242659

2013

dbSNP: rs2285053
rs2285053
CUI: C0006142
Disease: Malignant neoplasm of breast
Malignant neoplasm of breast
0.010 GeneticVariation BEFREE The minor allele frequency of rs2285053 was significantly lower in women with breast cancer cases as compared to control women; minor allele frequencies of the remaining single-nucleotide polymorphisms were similar between cases and control women. 31014197

2019

dbSNP: rs2285053
rs2285053
CUI: C0678222
Disease: Breast Carcinoma
Breast Carcinoma
0.010 GeneticVariation BEFREE The minor allele frequency of rs2285053 was significantly lower in women with breast cancer cases as compared to control women; minor allele frequencies of the remaining single-nucleotide polymorphisms were similar between cases and control women. 31014197

2019

dbSNP: rs2285053
rs2285053
CUI: C1956346
Disease: Coronary Artery Disease
Coronary Artery Disease
0.010 GeneticVariation BEFREE We explored the association of MMP2 (C-735T, rs2285053), MMP7 (A-181G, rs11568818) and MMP9 (R279Q, rs17576), (P574R, rs2250889), (R668Q, rs17577) genetic variants with LVD in coronary artery disease (CAD) patients. 22664146

2012

dbSNP: rs2285053
rs2285053
CUI: C0264765
Disease: Rheumatic disease of mitral valve
Rheumatic disease of mitral valve
0.010 GeneticVariation BEFREE Interestingly, rs3918242 MMP-9 and rs2285053 MMP-2 SNPs were significantly represented in cases than two control groups and were associated with a higher MVD risk, as demonstrated using dominant/recessive models. 27288746

2017

dbSNP: rs2285053
rs2285053
CUI: C0220641
Disease: Lip and Oral Cavity Carcinoma
Lip and Oral Cavity Carcinoma
0.010 GeneticVariation BEFREE In this case-control study, MMP2 promoter 1306 (rs243865) and -735 (rs2285053) genotypes and their interaction with consumption of areca, cigarettes, and alcohol in determining oral cancer risk were investigated among 788 patients with oral cancer and 956 gender-matched healthy controls. 30504396

2018

dbSNP: rs2285053
rs2285053
CUI: C0026265
Disease: Diseases of mitral valve
Diseases of mitral valve
0.010 GeneticVariation BEFREE Interestingly, rs3918242 MMP-9 and rs2285053 MMP-2 SNPs were significantly represented in cases than two control groups and were associated with a higher MVD risk, as demonstrated using dominant/recessive models. 27288746

2017

dbSNP: rs2285053
rs2285053
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis
0.010 GeneticVariation BEFREE In addition, rs2285053 was negatively associated with triple negativity, tumor size, distance metastasis, molecular type, and chemotherapy. 31014197

2019

dbSNP: rs2285053
rs2285053
CUI: C0003165
Disease: Anthracosis
Anthracosis
0.010 GeneticVariation BEFREE We investigated the association of three functional polymorphisms in MMP gene promoters (MMP1 rs1799750, MMP2 rs2285053 and MMP3 rs522616) with the risk of CWP. 26528997

2015

dbSNP: rs2285053
rs2285053
CUI: C0153381
Disease: Malignant neoplasm of mouth
Malignant neoplasm of mouth
0.010 GeneticVariation BEFREE In this case-control study, MMP2 promoter 1306 (rs243865) and -735 (rs2285053) genotypes and their interaction with consumption of areca, cigarettes, and alcohol in determining oral cancer risk were investigated among 788 patients with oral cancer and 956 gender-matched healthy controls. 30504396

2018

dbSNP: rs2287074
rs2287074
CUI: C0011334
Disease: Dental caries
Dental caries
0.010 GeneticVariation BEFREE The aim of this study was to analyse MMP2 (rs2287074) and MMP3 (rs679620) single nucleotide polymorphisms (SNPs) and their role in caries susceptibility. 27043485

2016

dbSNP: rs2287074
rs2287074
CUI: C0333519
Disease: Caries (morphologic abnormality)
Caries (morphologic abnormality)
0.010 GeneticVariation BEFREE The aim of this study was to analyse MMP2 (rs2287074) and MMP3 (rs679620) single nucleotide polymorphisms (SNPs) and their role in caries susceptibility. 27043485

2016

dbSNP: rs2287074
rs2287074
CUI: C0026618
Disease: Dental Fluorosis, Acquired
Dental Fluorosis, Acquired
0.010 GeneticVariation BEFREE A significant correlation was also found between the genotype of MMP2 rs2287074 and skeletal fluorosis severity. 28079131

2017

dbSNP: rs2287074
rs2287074
CUI: C0242383
Disease: Age related macular degeneration
Age related macular degeneration
0.010 GeneticVariation BEFREE The role of MMP2 r</span>s2287074 in ARM should be further elucidated. 18359774

2008

dbSNP: rs243832
rs243832
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident
0.010 GeneticVariation BEFREE We did not found any strong linkage between the six SNPs (rs1132896, rs1053605, rs243849, rs243847, rs243832, rs7201)The results presented strongly indicate that MMP-2 genetic variants are an important mediator of stroke risk. 30278505

2018

dbSNP: rs243847
rs243847
CUI: C0007766
Disease: Intracranial Aneurysm
Intracranial Aneurysm
0.010 GeneticVariation BEFREE In addition, two SNPs, rs243847 (P = 0.00086) and rs243865 (P = 0.00090), on matrix metallopeptidase 2 (MMP2) gene and one SNP rs1799724 (P = 0.0026) on tumor necrosis factor-α (TNF-α) gene, are marginally associated with IA in male- and female-specific manner, respectively. 21228795

2011

dbSNP: rs243864
rs243864
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 GeneticVariation BEFREE Haplotype analysis indicated the haplotype GGG (rs243864-rs17859821-rs243866) was associated with higher risk of systolic HF (adjusted OR 2.05, 95% CI 1.08-3.89; P = 0.028). 19295411

2009

dbSNP: rs243864
rs243864
CUI: C0018802
Disease: Congestive heart failure
Congestive heart failure
0.020 GeneticVariation BEFREE MMP-2 rs243866, rs243864 had no association with systolic HF prognosis. 19332048

2009