Role of Glutathione S-Transferase gene polymorphisms in the onset of Porphyria Cutanea Tarda in HIV infected individuals.

MELITO, VIVIANA; BATLLE, ALCIRA; PARERA, VICTORIA; BUZALEH ANA MARIA; PAGNOTTA, PRISCILA; ROSSETTI, MARIA VICTORIA; ZUCCOLI, JOHANNA

Mar del Plata

Congreso; LXIII Reunión Anual de la Sociedad Argentina de Investigación Clínica.; 2018

A high association of Porphyria Cutanea Tarda (PCT) with HIV infection (15%) is found in Argentina. To date slight evidence exists about if triggering factors of PCT, a rare toxicogenetic disease, in HIV patients are related to the infection and/or the therapy. Glutathione S-transferase (GST) is a member of Phase II drug metabolizing system and also involved in the drug detoxification system. Genetic polymorphisms that alter the activity of GST may affect the level of hormones and xenobiotics. Some polymorphisms in this gene are of clinical importance, among them: GSTT1 null, GSTM1 null and GSTP1 (c.313A>G). The aim was to analyze if these polymorphisms are involved in the triggering of PCT in HIV patients. With this purpose a population of Control (no PCT, no HIV, n=30), HIV (no PCT, n=30), PCT (n=30) and PCT-HIV (n=30) were studied. Analysis of GSTT1 null and GSTM1 null polymorphisms was performed by multiplex PCR; this assay discriminate the null genotype (homozygous deletion, absence of band), of the heterozygous and homozygous presence of genotypes. The analysis of haplotypes was also done.The homozygous deletion frequencies for GSTT1 were: 8.3% (Control), 6.7% (HIV), 0% (PCT) and 14.3% (PCT-HIV). The null genotype frequencies for GSTM1 were: 41.7% (Control), 53.3% (HIV), 33.3% (PCT) and 32.1% (PCT-HIV). The frequency of the deletion in homozygosis of GSTM1 null showed an opposite result than that observed for GSTT1 null. The fact that GSTT1 null was in a higher frequency in PCT-HIV group (p