ROLE OF VARIANTS OF ABCG2 GENE IN THE TRIGGERING OF PORPHYRIA CUTANEA TARDA IN HIV-INFECTED INDIVIDUALS

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

Mar del Plata

Congreso; LXVI REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INV...; 2022

Sociedad Argentina de Investigación Clínica

Porphyria Cutanea Tarda (PCT) is caused by a deficiency in Uro-porphyrinogen decarboxylase; there are 2 main types of PCT: hereditary and acquired. Xenobiotics, alcohol, abuse drugs, hormones and hepatotropic viruses are the main triggering factors of this hepatic disease. In our country, 16% of PCT patients are HIV infected individuals. Genetic variants affect the expression of the ABCG2 transporter, altering the efflux of drugs and heme; NM_004827.3:c.34G>A, and 004827.3:c.421C>A are present in a high frequency. Previously, the influence of ABCB1 genetic variants, a transporter of the same family as ABCG2, in the onset of PCT in HIV carriers was reported. The aim was to evaluate the role of the NM_004827.3:c.421C>A (rs2231142) variant of ABCG2 gene 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 allele A was in a very low frequency in all the groups. In PCT-HIV, the frequency of A (0.16) was higher than PCT (0.07, p