ARTICLE; MEDICAL BIOTECHNOLOGY Frequency of the common promoter polymorphism MMP2 ¡1306 C>T in a population from central Bulgaria

作者: Pavlina Chelenkova , Dimo Dimov , Stoyan Chakarov , Tanya Tacheva , Rumena Petkova

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摘要: Matrix metalloproteinases (MMPs) are a family of highly homologous extracellular Zn 2C -dependent endopeptidases, also known as matrixins. MMP-2 (gelatinase A) and MMP-9 B) considered to play key role in variety physiological processes well the development progression vast majority pathological conditions. Most genes encoding MMPs, including MMP-2, polymorphic. One single nucleotide polymorphisms with functional activity promoter region MMP2 is transition i1306C>T (rs243865). The aim present study was evaluate genotype allele frequencies common polymorphism 75 individuals from central Bulgaria compare our results those other population studies. We found that 76.0% randomly enrolled carriers CC genotype, 17.3% CT, 6.7% TT genotype. minor frequency (MAF) 15.3%. Interestingly, obtained appeared differ some Caucasian populations (USA 55/38/7, MAF 26%; Netherlands 52.8/40.5/6.7, 26.9%; Austria 55.6/35.5/8.9, 27.2%), but were closer values reported global distribution (75.3/21.3/3.4, 14%).

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