Istituto di Fisiologia Clinica     
Pucci L., Lucchesi D., Chirulli V., Penno G., Johansson I., Gervasi P. G., Del Prato S., Longo V. Cytochrome P450 2J2 polymorphism in healthy Caucasians and those with diabetes mellitus. In: American journal of pharmacogenomics : genomics-related research in drug development and clinical practice, vol. 03 (05) pp. 355 - 358. Adis International, 2003.
OBJECTIVE: Cytochrome P450 (CYP) 2J2 plays an important role in the biosynthesis of the biologically active cis-epoxyeicosatrienoic acids. An allelic variant named CYP2J2*6, which encodes an enzyme that is almost inactive in the metabolism of arachidonic acid, has recently been described. We investigated the frequency of the CYP2J2*6 variant in a Caucasian population and the relationship between this polymorphism and the development of micro- and macrovascular complications and hypertension in patients with type 1 or type 2 diabetes mellitus. METHODS: Genomic DNA was extracted from peripheral blood cells and the fragment containing the A/T single nucleotide polymorphism at position 25 661 in exon 8 of the CYP2J2 gene was amplified. The 532 bp amplified product was subsequently digested with Tsp509I and analyzed on 12% polyacrylamide gel electrophoresis. RESULTS: In the whole population, the frequency of the CYP2J2*6 allele was 0.0064 and the frequency of the CYP2J2*1 allele was 0.9936. Genotype distribution did not show significant differences between controls and patients with type 1 or type 2 diabetes. No homozygotes for CYP2J2*6 allele were found. No association was found between this allele and complications or hypertension in either type of diabetes. CONCLUSION: The CYP2J2*6 allele is rare in the Caucasian population, and no association is inferred between this allelic variant and diabetic complications.
Subject Cytochrome P450 (CYP)

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