rs1799750
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (-;-) | 0 | normal |
| (-;G) | 0 | normal |
| (G;G) | 1.5 | in breast cancer patients, slightly higher risk for poorer prognosis |
| Reference | GRCh38 38.1/142 |
| Chromosome | 11 |
| Position | 102799765 |
| Gene | MMP1, WTAPP1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799750 |
| dbSNP (classic) | rs1799750 |
| ClinGen | rs1799750 |
| ebi | rs1799750 |
| HLI | rs1799750 |
| Exac | rs1799750 |
| Gnomad | rs1799750 |
| Varsome | rs1799750 |
| LitVar | rs1799750 |
| Map | rs1799750 |
| PheGenI | rs1799750 |
| Biobank | rs1799750 |
| 1000 genomes | rs1799750 |
| hgdp | rs1799750 |
| ensembl | rs1799750 |
| geneview | rs1799750 |
| scholar | rs1799750 |
| rs1799750 | |
| pharmgkb | rs1799750 |
| gwascentral | rs1799750 |
| openSNP | rs1799750 |
| 23andMe | rs1799750 |
| SNPshot | rs1799750 |
| SNPdbe | rs1799750 |
| MSV3d | rs1799750 |
| GWAS Ctlg | rs1799750 |
| Merged from | Rs17886084 |
| GMAF | 0.4509 |
| Max Magnitude | 1.5 |
rs1799750 is a relatively common SNP at position -1,607 of the promoter of the MMP1 gene, consisting of an insertion polymorphism. In general, the insertion genotype ("2G/2G") is reported to lead to higher transcriptional activity of this gene, leading potentially to higher levels or rates of collagen breakdown.
In a study of ~200 breast cancer patients, those with rs1799750(G;G) genotype, i.e. also known as the "2G/2G" genotype, had increased frequency of lymph node metastasis and thus a poorer prognosis. The odds ratio for mixed ethnicities was 3.9 (CI: 1.7-9.4, p=0.001), and when calculated only for Caucasians, 2.6 (CI: 1.0-6.9, p=0.06).[PMID 18006768]
Subsequently, a 2012 meta-analysis based on about 10,000 cancer cases, half of which metastasized, concluded that 2G/2G genotypes had a slightly higher overall risk of metastasis (OR = 1.44 for homozygous minor, CI: 1.05-1.98).[PMID 22348060
]
[PMID 19508478] no influence on varicose veins
[PMID 19681861] Forty-two novel COL7A1 mutations and the role of a frequent single nucleotide polymorphism in the MMP1 promoter in modulation of disease severity in a large European dystrophic epidermolysis bullosa cohort
[PMID 20038976] Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma
[PMID 20808730] Role of functional single nucleotide polymorphisms of MMP1, MMP2, and MMP9 in open angle glaucomas
[PMID 21244504] Association of matrix metalloproteinase gene polymorphism with temporomandibular joint degeneration
[PMID 21410539] Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture
[PMID 21444408] Matrix metalloproteinase genes on chromosome 11q22 and the risk of anterior cruciate ligament (ACL) rupture
[PMID 16311244] Genotypes and haplotypes of matrix metalloproteinase 1, 3 and 12 genes and the risk of lung cancer.
[PMID 16356191] Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.
[PMID 17054776] The genetics of chronic obstructive pulmonary disease.
[PMID 18787421] Genetic contributions to disparities in preterm birth.
[PMID 18787887] Genetic variation in candidate osteoporosis genes, bone mineral density, and fracture risk: the study of osteoporotic fractures.
[PMID 18802702] Association of (-1,607) 1G/2G polymorphism of matrix metalloproteinase-1 gene with knee osteoarthritis in the Turkish population (knee osteoarthritis and MMPs gene polymorphisms).
[PMID 18805939] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.
[PMID 19318431] No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study.
[PMID 19321798] Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.
[PMID 19379518] Development of a fingerprinting panel using medically relevant polymorphisms.
[PMID 19406964] Association of genetic variants with chronic kidney disease in Japanese individuals.
[PMID 19435861] No association between matrix metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and endometrial cancer risk.
[PMID 19551141] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.
[PMID 19664242] Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection.
[PMID 20078883] Association of MMP-2 polymorphisms with severe and very severe COPD: a case control study of MMPs-1, 9 and 12 in a European population.
[PMID 20111728] Joint effect of MCP-1 genotype GG and MMP-1 genotype 2G/2G increases the likelihood of developing pulmonary tuberculosis in BCG-vaccinated individuals.
[PMID 20565774] Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
[PMID 21161369] Current evidence on the relationship between four polymorphisms in the matrix metalloproteinases (MMP) gene and breast cancer risk: a meta-analysis.
[PMID 22388798] Gene panels to help identify subgroups at high and low risk of coronary heart disease among those randomized to antihypertensive treatment: the GenHAT study.
[PMID 23370084] The MMP1 rs1799750 2G Allele is Associated With Increased Low Back Pain, Sciatica, and Disability After Lumbar Disk Herniation
[PMID 23441116] Polymorphisms in matrix metalloproteinases MMP1 and MMP9 are associated with primary open-angle and angle closure glaucoma in a Pakistani population
[PMID 22776467] Age at onset of rheumatoid arthritis: association with polymorphisms in the vascular endothelial growth factor A(VEGFA) gene and an intergenic locus between matrix metalloproteinase (MMP) 1 and 3 genes
[PMID 23497408] Genetic variants associated with circulating MMP1 levels near matrix metalloproteinase genes on chromosome 11q21-22 in Taiwanese: interaction with obesity
[PMID 23734748] Association of genes of protease-antiprotease balance pathway to lung function and emphysema subtypes
[PMID 23813847] The association of genetic variants of matrix metalloproteinases with abdominal aortic aneurysm: a systematic review and meta-analysis
[PMID 23819551] Genetic polymorphisms in matrix metalloproteinases (MMPs) and tissue inhibitors of MPs (TIMPs), and bladder cancer susceptibility
[PMID 15688379] EBV LMP1 induces the MMP-1 promoter via an Ets binding site formed by a single nucleotide polymorphism - enhanced susceptibility to nasopharyngeal carcinoma
[PMID 24505369] Matrix Metalloproteinase-1 (MMP-1) Promoter Polymorphisms are Well Linked with Lower Stomach Tumor Formation in Eastern Indian Population
[PMID 23274712] Genetic polymorphisms and the risk of myocardial infarction in patients under 45 years of age.
[PMID 23644943] Influence of matrix metalloproteinase-1 gene -1607 (1G/2G) (rs1799750) promoter polymorphism on circulating levels of MMP-1 in chronic pancreatitis.
[PMID 25253367] Role of interstitial collagenase gene promoter polymorphism in the etiology of gastric cancer
| ClinVar | |
|---|---|
| Risk | |
| Alt | |
| Reference | Rs1799750(G;G) |
| Significance | Other |
| Disease | Pulmonary disease Epidermolysis bullosa dystrophica Preterm premature rupture of membranes |
| Variation | info |
| Gene | MMP1 WTAPP1 |
| CLNDBN | Pulmonary disease, chronic obstructive, rate of decline of lung function in Epidermolysis bullosa dystrophica, autosomal recessive, modifier of Preterm premature rupture of membranes |
| Reversed | 1 |
| HGVS | NC_000011.10:g.102799765C\x3d |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000018649.27, RCV000018650.28, RCV000018651.23, |
[PMID 25950130] Analysis of the Association of Matrix Metalloproteinase-1 Gene Promoter (rs1799750) Polymorphism and Risk of Ovarian Cancer
[PMID 27556208] MMP1-1607 polymorphism increases the risk for periapical lesion development through the upregulation MMP-1 expression in association with pro-inflammatory milieu elements.
[PMID 27620811] Associations between various possible promoter polymorphisms of MMPs genes and endometriosis risk: a meta-analysis.
[PMID 28612708] Contribution of matrix metalloproteinases-1 genotypes to gastric cancer susceptibility in Taiwan.
[PMID 31441739] [Study of associations of polymorphism of matrix metalloproteinases genes with the development of arterial hypertension in men].
[PMID 33351325] [Gene-environment interactions between polymorphic loci of MMPs and obesity in essential hypertension in women.]
