Naila Malkani, Hira Hamid, Mehwish Farheen, Andleeb Batool, Atif Yaqub.
Association of matrix metalloproteinase 2 (MMP2) with atherosclerosis among population of Lahore Pakistan.
Pak Heart J Jan ;52(1):36-40.

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

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