title: Frequency of the common promoter polymorphismMMP2 -1306 C>Tin a population from central Bulgaria.
abstract: Matrix metalloproteinases (MMPs) are a family of highly homologous extracellular Zn2+-dependent endopeptidases, also known as matrixins. MMP-2 (gelatinase A) and MMP-9 (gelatinase B) are considered to play a key role in a variety of physiological processes as well as in the development and progression of a vast majority of pathological conditions. Most of the genes encoding MMPs, including MMP-2, are highly polymorphic. One of the single nucleotide polymorphisms with functional activity in the promoter region ofMMP2is the transitionMMP2 -1306C>T(rs243865). The aim of the present study was to evaluate the genotype and allele frequencies of the common promoter polymorphism-1306C>TinMMP2in 75 individuals from central Bulgaria and to compare our results with those of other population studies. We found that 76.0% of the randomly enrolled individuals are carriers of theCCgenotype, 17.3% ofCT, and 6.7% of theTTgenotype. The minor allele frequency (MAF) was 15.3%. Interestingly, the obtained genotype frequencies appeared to differ from those of some other Caucasian populations (USA - 55/38/7, MAF 26%; The Netherlands - 52.8/40.5/6.7, MAF 26.9%; Austria - 55.6/35.5/8.9, MAF 27.2%), but were closer to the values of the reported global genotype distribution (75.3/21.3/3.4, MAF 14%).
authors.affiliation: Department of Chemistry and Biochemistry, Medical Faculty , Trakia University , Stara Zagora , Bulgaria.
authors.forename: Tanya
authors.initials: T
authors.lastname: Tacheva
authors.affiliation: STS Ltd. , Sofia , Bulgaria.
authors.forename: Pavlina
authors.initials: P
authors.lastname: Chelenkova
authors.affiliation: Department of Internal Medicine, Medical Faculty, Trakia University , Stara Zagora , Bulgaria.
authors.forename: Dimo
authors.initials: D
authors.lastname: Dimov
authors.affiliation: STS Ltd. , Sofia , Bulgaria.
authors.forename: Rumena
authors.initials: R
authors.lastname: Petkova
authors.affiliation: Department of Biochemistry, Faculty of Biology, Sofia University "St Kliment Ohridski" , Sofia , Bulgaria.
authors.forename: Stoyan
authors.initials: S
authors.lastname: Chakarov
authors.affiliation: Department of Chemistry and Biochemistry, Medical Faculty , Trakia University , Stara Zagora , Bulgaria.
authors.forename: Tatyana
authors.initials: T
authors.lastname: Vlaykova
keywords: MAF; MMP2; SNP; genotyping