Role of variants of ABCG2 gene in the triggering of Porphyria Cutanea Tarda in HIV-infected individuals

BUSCALIA, MARIA LAURA; ZUCCOLI, JOHANNA; MELITO, VIVIANA; PARERA, VICTORIA; BUZALEH ANA MARIA

Virtual

Congreso; LXVI REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INVESTIGACIÓN CLÍNICA (SAIC); 2021

Sociedad Argentina de Investigación Clínica

Porphyria Cutanea Tarda (PCT) is caused by a deficiency in Uroporphyrinogen Uroporphyrinogendecarboxylase; there are 2 main types of PCT:hereditary and acquired. Xenobiotics, alcohol, abuse drugs, hormonesand hepatotropic viruses are the main triggering factorsof this hepatic disease. In our country, 16% of PCT patients areHIV infected individuals. Genetic variants affect the expressionof the ABCG2 transporter, altering the efflux of drugs and heme;NM_004827.3:c.34G>A, and NM_004827.3:c.421C>A are presentin a high frequency. Previously, the influence of ABCB1 geneticvariants, a transporter of the same family as ABCG2, in the onsetof PCT in HIV carriers was reported. The aim was to evaluate therole of the NM_004827.3:c.421C>A (rs2231142) variant of ABCG2gene in the association PCT-HIV. A population of control (n=33),HIV (n=33), PCT (n=35) and PCT-HIV (n=42) individuals was studied.Genotyping was done by PCR-RFLP. The non-wild type alleleA was in a very low frequency in all the groups. In PCT-HIV, thefrequency of A (0.16) was higher than PCT (0.07, p