The role of cytochrome P450 isoenzymes on Porphyria Cutanea Tarda development

GORDILLO D M; ABOU ASSALI L; CERBINO G N; VARELA L S; BATLLE A; PARERA VE; ROSSETTI MV

Mar del Plata

Congreso; LXIII reunión anual de la SAIC; 2018

It was suggested a role for some CYP1A1 and CYP1A2 isoformes in PCTdevelopment but the results from different populations are controversial. Weanalised three polymorphisims, one in CYP1A2 and two in CYP1A1 in a groupof Argentinean PCT patients and in a control group. One hundred and twelvePCT patients, 36 H-PCT and 76 A-PCT were analysed employing PCR-RFLPand each variant was compared with 89 controls. The Fisher exact test wasused to detect differences in alelles and genotype frequencies, odds ratio and95% confidential interval.For CYP1A2*1F polymorphism was the only case in which the wild type C allelewas more frequent than the mutant A allele which has the highesttranscriptional activity been the risk allele for PCT development according toWickliffe et al (2011).For CYP1A1 the m4 polymorphism wich there are not report about the effect ofthe nucleotide or aminoacid change for enzyme activity our result show that?sthe A allele is a risk factor for porphyria triggering although the program Predictsnp did not show any deleterious effect for these aminoacid change. For the m2polymorphism were in accord with those obtained with Cascorbi et al (1996), forthe G variant more active than wt variant being the risk factor when wecompared H-PCT vs A-PCT. For m1 polymorphism did not show significativedifference although previous report showed that C variant has the highestcatalytic activity (Wei Liu et 2014).According snpSTATs program the risk haplotype for m4-m2-m1-1A2polymorphism was C-G-C-C.