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rs1799750

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 normal
(-;G) 0 normal
(G;G) 1.5 in breast cancer patients, slightly higher risk for poorer prognosis
ReferenceGRCh38 38.1/142
Chromosome11
Position102799765
GeneCOX6CP3, MMP1
is asnp
is mentioned by
dbSNPrs1799750
ebirs1799750
HLIrs1799750
Exacrs1799750
Varsomers1799750
Maprs1799750
PheGenIrs1799750
hapmaprs1799750
1000 genomesrs1799750
hgdprs1799750
ensemblrs1799750
gopubmedrs1799750
geneviewrs1799750
scholarrs1799750
googlers1799750
pharmgkbrs1799750
gwascentralrs1799750
openSNPrs1799750
23andMers1799750
23andMe allrs1799750
SNP Nexus

SNPshotrs1799750
SNPdbers1799750
MSV3drs1799750
GWAS Ctlgrs1799750
Merged fromRs17886084
GMAF0.4509
Max Magnitude1.5

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 22348060OA-icon.png]

[PMID 19508478] no influence on varicose veins

OMIM226600
DescEPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
Variant
Relatedalso
OMIM120353
DescMATRIX METALLOPROTEINASE 1; MMP1
Variant
Relatedalso

[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 20038976OA-icon.png] Evaluation of MMP1 and MMP3 gene polymorphisms in exfoliation syndrome and exfoliation glaucoma


[PMID 20808730OA-icon.png] 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

OMIM120353
Desc
Variant0001
Relatedalso
OMIM610504
Desc
Variant
Relatedalso


[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 16356191OA-icon.png] Regulatory polymorphisms in extracellular matrix protease genes and susceptibility to rheumatoid arthritis: a case-control study.


[PMID 17054776OA-icon.png] The genetics of chronic obstructive pulmonary disease.


[PMID 18787421OA-icon.png] Genetic contributions to disparities in preterm birth.


[PMID 18787887OA-icon.png] 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 18805939OA-icon.png] Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.


[PMID 19318431OA-icon.png] No association between matrix metalloproteinase-1 or matrix metalloproteinase-3 polymorphisms and breast cancer susceptibility: a report from the Shanghai Breast Cancer Study.


[PMID 19321798OA-icon.png] Matrix metalloproteinase 1, 3 and 12 polymorphisms and esophageal adenocarcinoma risk and prognosis.


[PMID 19379518OA-icon.png] Development of a fingerprinting panel using medically relevant polymorphisms.


[PMID 19406964OA-icon.png] Association of genetic variants with chronic kidney disease in Japanese individuals.


[PMID 19435861OA-icon.png] No association between matrix metalloproteinase (MMP)-1, MMP-3, and MMP-7 SNPs and endometrial cancer risk.


[PMID 19551141OA-icon.png] Analysis of germline variants in CDH1, IGFBP3, MMP1, MMP3, STK15 and VEGF in familial and sporadic renal cell carcinoma.


[PMID 19664242OA-icon.png] Functional polymorphisms in matrix metalloproteinases -1, -3, -9 and -12 in relation to cervical artery dissection.


[PMID 20078883OA-icon.png] 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 20111728OA-icon.png] 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 20565774OA-icon.png] 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 22388798OA-icon.png] 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 23441116OA-icon.png] 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 23497408OA-icon.png] Genetic variants associated with circulating MMP1 levels near matrix metalloproteinase genes on chromosome 11q21-22 in Taiwanese: interaction with obesity


[PMID 23734748OA-icon.png] 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 24505369OA-icon.png] Matrix Metalloproteinase-1 (MMP-1) Promoter Polymorphisms are Well Linked with Lower Stomach Tumor Formation in Eastern Indian Population


[PMID 23274712OA-icon.png] 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 25253367OA-icon.png] Role of interstitial collagenase gene promoter polymorphism in the etiology of gastric cancer


ClinVar
Risk rs1799750(;)
Alt rs1799750(;)
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.