DHPLC analysis of the matrix metalloproteinase-1 promoter 1G/2G polymorphism that can be easily used to screen large population

Matrix metalloproteinase-1 has been shown to play an important role in all stages of cancer initiation, invasion, and metastasis. The 1G/2G single nucleotide polymorphism (SNP) at − 1607 to − 1608 creates an Ets binding site and elevates the rate of transcription. Moreover, the presence of the 2G allele in the MMP-1 promoter has been reported to be associated with the development and/or progression of carcinomas of the ovary, endometrium, lung, and colorectum. However, further studies on a wide variety of cancers in various sufficiently large populations will be required to verify that 2G is risk factor for cancers. A major challenge confronting such studies is the need to develop accurate, fast and inexpensive high-throughput genotyping techniques. To set up a fast and sensitive test for MMP-1 1G/2G genotyping, we analyzed 126 healthy persons by denaturing high performance liquid chromatography (DHPLC). The genotypes of MMP-1 1G/2G revealed by DHPLC analysis were further confirmed by DNA sequencing. In conclusion, DHPLC is a cost-effective, rapid, sensitive, and high-throughput technique for MMP-1 1G/2G genotyping.