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Paraoxonase 1 mutations in a Turkish population
A S Aynacioglu1, I Cascorbi, P M Mrozikiewicz
1University Clinic Charité, Humboldt University, Berlin, Germany.
Toxicology and Applied Pharmacology
|June 22, 1999
Summary
Paraoxonase 1 (PON1) gene variations affect pesticide and cardiovascular disease risk. Turkish populations show intermediate PON1 allele frequencies compared to European and Oriental groups, impacting detoxification and disease susceptibility.
Area of Science:
- Biochemistry
- Human Genetics
- Pharmacogenomics
Background:
- Human serum paraoxonase 1 (PON1) enzyme activity varies significantly between individuals and ethnic groups.
- PON1 plays a crucial role in detoxifying organophosphate pesticides and hydrolyzing oxidized low-density lipoproteins (LDL), linking it to cardiovascular disease pathogenesis.
- Genetic polymorphisms, specifically Gln192Arg (Q/R) and Leu55Met (L/M), are known to influence PON1 enzyme activity.
Purpose of the Study:
- To determine the allele frequencies of the Gln192Arg and Leu55Met polymorphisms in the Turkish population.
- To compare these frequencies with those reported in other European and Oriental populations.
- To understand the implications of PON1 genetic variations on detoxification capacity and disease susceptibility in Turks.
Main Methods:
- Genotyping of 381 unrelated Turkish individuals using Polymerase Chain Reaction-Restriction Fragment Length Polymorphism (PCR-RFLP).
- Specific restriction enzymes AlwI and NlaIII were employed to analyze the Gln192Arg and Leu55Met polymorphisms, respectively.
- Allele frequencies were calculated based on the observed genotype distributions.
Main Results:
- The genotype distribution for Gln192Arg was QQ=0.49, QR=0.40, RR=0.11, and for Leu55Met was LL=0.52, LM=0.39, MM=0.09.
- The frequencies of the high-activity alleles Arg (R) and Leu (L) were 0.31 and 0.72, respectively.
- Turkish subjects exhibited slightly higher frequencies of these alleles compared to other Caucasian populations but significantly lower frequencies than Oriental populations.
Conclusions:
- The study establishes baseline frequencies for key PON1 polymorphisms in the Turkish population.
- The observed allele frequencies suggest a genetic profile intermediate between European and Oriental populations.
- These findings are important for understanding variations in susceptibility to organophosphate toxicity and cardiovascular disease risk within the Turkish population.