Frequency of the common promoter polymorphism MMP2 -1306 C>T in a population from central Bulgaria

Area of Science:

• Genetics
• Molecular Biology
• Population Studies

Background:

• Matrix metalloproteinases (MMPs), specifically MMP-2 (gelatinase A), are crucial extracellular enzymes involved in physiological and pathological processes.
• The MMP2 gene is highly polymorphic, with the promoter single nucleotide polymorphism -1306C>T (rs243865) potentially influencing gene activity.

Purpose of the Study:

• To determine the genotype and allele frequencies of the MMP2 -1306C>T promoter polymorphism in a central Bulgarian population.
• To compare these frequencies with existing data from other Caucasian and global populations.

Main Methods:

• Genotyping of the MMP2 -1306C>T polymorphism was performed on 75 individuals from central Bulgaria.
• Genotype and minor allele frequencies (MAF) were calculated and compared with published data.

Main Results:

• The study found CC genotype frequency at 76.0%, CT at 17.3%, and TT at 6.7%, with a MAF of 15.3% in the Bulgarian cohort.
• These frequencies align more closely with global distributions than with specific Caucasian populations from the USA, Netherlands, and Austria, which exhibit higher MAFs.
• The Bulgarian population's genotype distribution suggests a distinct genetic profile for this MMP2 polymorphism.

Conclusions:

• The genotype and allele frequencies of the MMP2 -1306C>T polymorphism in central Bulgaria differ from several other Caucasian populations.
• The findings highlight potential regional genetic variations in MMP2 promoter polymorphisms and their relevance in population genetics studies.