Rs1799750
From SNPedia
| is a | snp |
| is | mentioned by |
| dbSNP | rs1799750 |
| hapmap | rs1799750 |
| hgdp | rs1799750 |
| ensembl | rs1799750 |
| gopubmed | rs1799750 |
| scholar | rs1799750 |
| rs1799750 | |
| pharmgkb | rs1799750 |
| hgvbaseg2p | rs1799750 |
| medrefsnp | rs1799750 |
| 23andMe | rs1799750 |
| SNP Nexus |
| Gene | MMP1 |
| Chromosome | 11 |
| Orientation | minus |
| Position | 102175705 |
| Genotype | Effect |
|---|---|
| rs1799750(-;-) | normal |
| rs1799750(-;G) | normal |
| rs1799750(G;G) | in breast cancer patients, risk of poorer prognosis |
| Genotypes | Magnitude | Summary |
|---|---|---|
| Rs1799750(-;-) | normal | |
| Rs1799750(-;G) | normal | |
| Rs1799750(G;G) | in breast cancer patients, risk of poorer prognosis |
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]
[PMID 19508478] no influence on varicose veins
Related to EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE; RDEB
according to omim 226600. See also
Related to MATRIX METALLOPROTEINASE 1; MMP1
according to omim 120353. See also
[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
