Rs1799750

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).

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).

no influence on varicose veins