Influence of Matrix Metalloproteinase Gene Polymorphisms in Healthy North Indians Compared to Variations in other Ethnic Groups Worldwide

Abstract

Matrix metalloproteinases have a range of biological functions, including the liberation of cytokines andmembrane-bound receptors, with roles in promotion of tumor invasion and angiogenesis. Several polymorphismsin MMPs have been implicated in the development of cancer as well as other diseases. Since their frequencydistributions in the general North Indian population is not known the present study was conducted with thefocus on MMP-1(-519) A>G, MMP-1(-1607) 1G>2G, and MMP-7(-181) A>G gene polymorphisms. PCR-basedanalysis was conducted for 200 normal healthy individuals of similar ethnicity. Allelic frequencies in wild typeof MMP-1(-519) A>G were 71.2% A; MMP-1(-1607) 1G>2G 48.2% 1G; MMP-7(-181) A>G 60.7% A. The variantallele frequencies were 29% A in MMP-1(-519) A>G; 52% 2G in MMP-1(-1607) 1G>2G; and 39.3% G in MMP-7(-181) A>G respectively. We further compared frequency distribution for these genes with various publishedstudies in different ethnicity globally. Our results suggest that frequency in these MMP genes exhibit distinctivepatterns in India that could perhaps be attributed to ethnic variation. This study is important as it can form abaseline for screening individuals who are at high risk when exposed to environmental carcinogens. More emphasisis needed on evaluating polymorphisms, alone or in combination, as modifiers of risk from relevant environmental/lifestyle exposures.