GENOTYPING OF THE 421C> A VARIANT OF THE BCRP GENE. ROLE IN THE TRIGGERING OF PORFIRIA CUTÁNEA TARDA IN HIV-INFECTED INDIVIDUALS

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

Buenos Aires

Congreso; CONGRESO DE SOCIEDAD DE INVESTIGACIÓN CLÍNICA; 2020

SAIC

GENOTYPING OF THE 421C> A VARIANT OF THE BCRP GENE. ROLE IN THE TRIGGERING OF PORFIRIA CUTÁNEA TARDA IN HIV-INFECTED INDIVIDUALSZUCCOLI, ROMINA JOHANNA(1); BUSCALIA, MARIA LAURA(1); MELITO, VIVIANA(1,2); PARERA, VICTORIA & BUZALEH, ANA MARIA(1,2)CENTRO DE INVESTIGACIONES SOBRE PORFIRINAS Y PORFIRIAS (CIPYP), HOSPITAL DE CLINICAS, CONICET-UBA (1)DEPARTAMENTO DE QUÍMICA BIOLÓGICA, FACULTAD DE CIENCIAS EXACTAS Y NATURALES, UNIVERSIDAD DE BUENOS AIRES(2) Genetic variants affect the expression of the protein "Breast Cancer Resistant Protein" (BCRP, ABCG2) by altering the transport of drugs and heme; these variants, 34G> A, 376C> T and 421C> A, are high frequency. The Porfiria Cutánea Tardía (PCT) is produced by deficiency in Uroporphyrinogen decarboxylase: there are 2 main types PCT hereditary and acquired; It is triggered by: drugs, alcohol, drugs of abuse and hepatotrophic viruses. In our country, 17% of PCTs are carriers of the human immunodeficiency virus (HIV). Previously, it was shown that genetic variants of the ABCB1 transporter, the same family as ABCG2, would influence the triggering of PCT in HIV individuals. The objective was to evaluate the role of the 421C>A (rs2231142) variant of the BCRP gene in control, HIV, PCT and PCT-HIV individuals. Genotyping was performed by PCR-RFLP. The mutated allele A was in very low frequency in all groups. In PCT-HIV, the frequency of A (0.21) was higher compared to PCT and HIV (0.05; p A was in a very low frequency in heterozygosity in all groups with higher values for the PCT-HIV group (36%, p A variant in the BCRP gene could be related to the manifestation of this porphyria only in PCT-HIV patients. The analysis of the other SNVs (34G>A, 376C>T) will make it possible to establish the presence or absence of risk haplotypes in the manifestation of PCT associated or not with HIV. The results of this analysis, together with the results previously obtained on genetic variants in drug transporter genes, will allow a more complete risk haplotype for the triggering of PCT.