DefinePK

Abstract

Objective: To determine the role of single nucleotide polymorphisms (SNPs) inmatrixmetalloproteinase 2 gene and their outcomes in development ofatherosclerosis.Methodology: In this case-control study two SNPs in MMP 2 gene rs 243865(BfaI) and rs243866 (NlaIII) were studied in subjects with atherosclerotic diseasefrom Punjab Institute of Cardiology, Lahore, Pakistan and healthy controls.Genomic DNA was isolated from each blood sample and targeted sequence wasamplified by PCR. Restriction Fragment Length Polymorphism Analysis (RFLPPCR)and direct sequencing were used for genotyping.Results: Total 200 subjects with 100 patients and 100 healthy controls.The datashowed that male gender, higher BMI, smoking, positive family history, middleage and other clinical risk factors were significantly associated with theatherosclerosis. As a result of genotyping it was observed that allele andgenotype frequency of rs243865 (BfaI) polymorphism differed significantlybetween atherosclerotic patients and controls. Significant association of A alleleof rs243866 (NlaIII) polymorphism was found to be associated withatherosclerosis. However, there was no difference in genotype frequencybetween atherosclerotic patients and controls. Haplotype analysis indicated thatCA, CG and TA haplotypes can be significantly connected with theatherosclerosis (p < 0.01). Whereas, haplotype TG frequency was higher incontrol individuals so it may act as a protective factor against the atherosclerosisdevelopment.Conclusion: MMP2 gene polymorphism can be associated with development ofatherosclerosis in Pakistani population.Key Words: Atherosclerosis, MMP2, Single nucleotide polymorphism, Riskfactors, PCR-RFLP.