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

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

Buenos Aires

Congreso; REUNIÓN CONJUNTA DE SOCIEDADES DE BIOCIENCIAS; 2017

Sociedad Argentina de Investigación Clínica (SAIC)

A high association of Porphyria Cutanea Tarda (PCT) with HIV infection(17%) is found in our country. To date slight evidence existsabout if triggering factors of PCT, a rare toxicogenetic disease, inHIV patients are related to the infection and/or therapy. The MultidrugResistance protein (MDR1) is involved in the transport of xenobioticsand antiretroviral drugs. Some polymorphisms in MDR1gene 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 incontrol, PCT and PCT-HIV individuals. The aim was to complete thisresearch 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 (exon12) 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%, CT71.9%, TT 0%; exon 21: GG 40.0%, GT 43.3%, TT 13.3%. In HIVpopulation, the frequency of T allele for exon 26 was lower than PCTand PCT-VIH groups, although differences were not significant. Forexon 21, T allele frequency was significantly minor (p