CYTOCHROME P450 ISOENZYMES SINGLE NUCLEOTIDE POLYMORPHISMS (SNPS) ARE REALLY INVOLVED IN PORPHYRIA CUTANEA TARDA?

CERBINO GABRIELA NORA; PARERA VICTORIA E; DIEGO MIGUEL GORDILLO,; ALCIRA BATLLE; MARIA VICTORIA ROSSETTI; ABOU ASSALI LUBNA; LAURA SABINA VARELA

Mar del Plata

Congreso; LXIII Reunión Científica de la Sociedad Argentina de Investigacion Clinica (SAIC); 2018

SAIC

It was suggested a role for some CYP1A1 and CYP1A2 isoformes in PCT development but the results from different populations are controversial. We analised three polymorphisims, one in CYP1A2 and two in CYP1A1 in a group of Argentinean PCT patients and in a control group. One hundred and twelve PCT patients, 36 H-PCT and 76 A-PCT were analysed employing PCR-RFLP and each variant was compared with 89 controls. The Fisher exact test was used to detect differences in alelles and genotype frequencies, odds ratio and 95% confidential interval. For CYP1A2*1F polymorphism was the only case in which the wild type C allele was more frequent than the mutant A allele which has the highest transcriptional activity been the risk allele for PCT development according to Wickliffe et al (2011). For CYP1A1 the m4 polymorphism wich there are not report about the effect of the nucleotide or aminoacid change for enzyme activity our result show that?s the A allele is a risk factor for porphyria triggering although the program Predict snp did not show any deleterious effect for these aminoacid change. For the m2 polymorphism were in accord with those obtained with Cascorbi et al (1996), for the G variant more active than wt variant being the risk factor when we compared H-PCT vs A-PCT. For m1 polymorphism did not show significative difference although previous report showed that C variant has the highest catalytic activity (Wei Liu et 2014). According snpSTATs program the risk haplotype for m4-m2-m1-1A2 polymorphism was C-G-C-C.