CYP2D6 polymorphism studies: How forensic genetics helps clinical medicine

CYP2D6 polymorphism, recently studied by minisequencing analysis, lets physicians know the phenotype of a patient or a worker, allowing the correct therapy or the development of a preventive occupational medicine, since recently evidence in favour of CYP2D6 phenotype and pesticide exposure interaction in parkinsonism has been described. In the forensic field the usefulness of CYP2D6 polymorphism is known, in the future joining the classical autopsy with the forensic genetic laboratory. With the aim to genotype a rural area where the pesticides are widely employed, we studied a population sample from Ravenna in the North of Italy. We also analyzed an African population sample, in order to characterize a geographic area where the CYP2D6 ultra metabolizer phenotype is more frequent, to compare the genetic makeup and to enlarge the CYP2D6 population data. A total of 122 individuals resident in the Ravenna area and 65 individuals from North and East Africa were tested by minisequencing method for 11 SNPs positions together with gene deletions and duplications. The Ravenna population, even if in agreement with population data available up to date, showed a slightly higher rate of non-functional alleles defining the poor metabolizer phenotype. African population genotyping confirms the higher rate of gene duplication already reported. The obtained data highlight the need to know the genetic background of a geographical area related to the economical and social setting to address the healthy policies in the occupational medicine nevertheless considering the today admixed population structure.