MDR1 polymorphisms in HIV infected individuals. Its influence in Porphyria Cutanea Tarda triggering

PAGNOTTA P; ZUCCOLI, JOHANNA; PARERA VICTORIA ESTELA; ROSSETTI MARÍA VICTORIA; LAVANDERA, JIMENA; BATLLE, ALCIRA; BUZALEH, ANA MARIA; MELITO, VIVIANA

Congreso; LXII REUNION CIENTIFICA ANUAL DE LA SOCIEDAD ARGENTINA DE INVESTIGACION CLINICA (SAIC); 2017

A high association of Porphyria Cutanea Tarda (PCT) with HIV infection (17%) is found in our country. 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 therapy. The Multidrug Resistance protein (MDR1) is involved in the transport of xenobiotics and antiretroviral drugs. Some polymorphisms in MDR1 gene are of clinical importance, among them: exon 12 (c.1236C>T), 21 (c.2677G>T/A) and 26 (c.3435C>T) with high incidence in Caucasians. The frequency of these SNPs was previously studied in control, PCT and PCT-HIV individuals. The aim was to complete this research analyzing HIV patients without PCT by PCR-RFLP assay. The analysis of 1236T-2677T/A-3435T haplotypes was performed. The polymorphic allelic frequencies were 0.45 (exon 26), 0.36 (exon 12) and 0.37 (exon 21). Genotypic frequencies were as follows: exon 26: CC 25.0%, CT: 59.4%, TT 15.6%; exon 12: CC 28.1%, CT 71.9%, TT 0%; exon 21: GG 40.0%, GT 43.3%, TT 13.3%. In HIV population, the frequency of HIV T allele for exon 26 was lower than PCT and PCT-VIH groups, although differences are not significant. For exon 21, T allele frequency was significantly minor (p