Study of the relationship between variants of cyp2c9 enzyme and acute intermittent porphyria manifestation

Abstract

Abstract: Objective: The manifestation of Acute Intermittent Porphyria (AIP) requires many factors. In situations of high demand of heme, initial enzyme of the pathway in parallel to P450 cytochrome genes (CYPs) is induced in response to drugs. It was suggested that variants in CYP2C9, would play a role in AIP manifestation, according to the theory of Thunell.S at 2006Acute. Method: It was studied genotype and allele frequency of some SNPs in a control and AIP patients groups, then was analyzed the relation of those found variants with heme precursors. We amplified by PCR a fragment covering from intron 1 to intron 3. All obtained data were analyzed by Statistical programs VccSTAT© and InfoSTAT©. Results: We detected 4 different polymorphisms: two missense variants in exon 3 g.8633 C <T and g.8652 G <A, and two SNPs no translated g.8187 G <C and g.8436 T <C in introns 1 and 2, respectively. And there were not significant frequencies in all studied groups. Conclusions: The presence of genotypes G/C-C/T was in major frequency in AIP men, which also have high levels of ALA and PBG comparing with women. Worldwide, this study clearly demonstrated for the first time that AIP men with G/CC/T variants could have a high possibility to trigger the disease due to porphyrinogenic drug consumption, as a mainly reason to development the disease in male patients.