PORPHYRIA CUTANEA TARDA AND HIV ASSOCIATION: INVOLVEMENT OF ABCG2 TRANSPORTER VARIANTS

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

Sofia

Congreso; PORPHYRINS AND PORPHYRIAS 2022 (ICPP 2022); 2022

BackgroundPorphyria Cutanea Tarda (PCT) is caused by a deficiency in Uroporphyrinogen decarboxylase; there are 2 main types of PCT: hereditary and acquired. In Argentina, 16% of PCT patients are infected with human immunodeficiency virus (HIV). Genetic variants affect the expression of the ABCG2 transporter, altering the efflux of drugs and heme. NM_004827.3:c.34G>A and NM_004827.3:c.421C>A variants are present in a high frequency. Previously, we analyzed the influence of ABCB1 variants, a transporter of the same family as ABCG2, in the onset of PCT in HIV carriers. The aim was to evaluate the role of ABCG2 gene variants in the association of PCT-HIV.Materials and methodsA population of Control, HIV, PCT and PCT-HIV individuals was studied. All of them had signed the corresponding Informed Consent. Genotyping was done by PCR-RFLP for c.421C>A and by direct sequencing for c.34G>A.ResultsFor c.421C>A variant, non-wild type allele A frequency in PCT-HIV (0.16) was higher (pA variant, low frequency in heterozygosis (GA) in all groups (30-40%) compared to homozygosis (GG) (around 60%) was observed. The AA genotype was only found in PCT-HIV and PCT groups (7.1%). No significant variation was found among groups in allelic frequency for this SNV.ConclusionsThe presence of AA genotypes in both variants of ABCG2 gene could be associated with the onset of PCT. c.421C>A variant could be related to the trigger of this porphyria in HIV patients. Combining analysis of ABCG2 variants with those previously obtained for ABCB1 will enable us to further conclude about the risk haplotype for PCT manifestation. Due to the multifactorial nature of the triggering of porphyria, they are of utmost importance.