BECAS
GORDILLO Diego Miguel
congresos y reuniones científicas
Título:
Cytochrome P450 isoenzymes Single Nucleotide Polymorphisms (SNPs) are really involved in Porphyria Cutanea Tarda development ?
Autor/es:
GORDILLO DM; CERBINO GN; VARELA LS; BATLLE A
Lugar:
Bordeaux
Reunión:
Congreso; PORPHYRINS AND PORPHYRIAS 2017; 2017
Institución organizadora:
Centre français des porphyries
Resumen:
It was suggested a role for some CYP1A1 and CYP1A2 isoformes in PCT development but theresults from different populations are controversial. We analised three polymorphisims, one inCYP1A2 and two in CYP1A1 in a group of Argentinean PCT patients and in a control group. Onehundred PCT patients, 37 H-PCT and 63 A-PCT were analysed employing PCR-RFLP and eachvariant was compared with 73 controls. The Fisher exact test was used to detect differences inalelles and genotype frequencies, odds ratio and 95% confidential interval. For CYP1A2*1F (-163AC) the frecuences of A alelle and A/A genotype are higher for both types of PCT vs controlgroup, being the A allele associated to a more transcriptional activity of CYP1A2 gene. There aresignificant diferences for A/A (p0.022) and A/C (p0.022) genotypes vs C/C genotype and also Aallele vs C alelle (p0.018) for total PCT vs control group. For CYP1A1*4A or m4 (c.4487 CA;p.T461N), C alelle and C/C genotype are the most frequent for total PCT vs control group. Asignificant differece for C/C and C/A genotypes vs A/A genotype were found (p0.028 and C/Ap0.014 respectively). The same was observed for the hererozygous genotype vs A/A. For CYP1A1*2C or m2 (c.4889 AG; p.I462V), A/A genotype and A alelle frequencies were higher for allgroups. In this case G alelle codified for a higher activity enzyme than wild type allele. Significantdifferences were found only for A-PCT vs control for A/A vs A/G genotypes (p0.0016). So wecould concluded that these polymorphisms could be, among others, a risk factor to PCT clinicalsigns triggering in Argentinean population.