THE ROLE OF c.421C>A VARIANT OF ABCG2 GENE IN THE TRIGGERING OF PORPHYRIA CUTANEA TARDA IN HIV-INFECTED INDIVIDUALS

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

Virtual

Congreso; REUNIÓN BIOCIENCIAS 2020; 2020

Sociedad Argentina de Investigación Clínica

Genetic variants affect the expression of the ABCG2 transporter, altering the efflux of drugs and heme; NM_004827.3:c.34G>A, NM_004827.3:c.376C>T and NM_004827.3:c.421C>A variants are present in a high frequency. Porphyria Cutanea Tarda (PCT) is caused by a deficiency in Uroporphyrinogen decarboxylase; there are 2 main types of PCT: hereditary and acquired. Xenobiotics, alcohol, abuse drugs and hepatotropic viruses are the main triggering factors of the disease. In our country, 16% of PCT patients are HIV infected individuals. 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, HIV, PCT and PCT-HIV 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 (0.21) was higher than PCT and HIV values (0.05; pA, NM_004827.3:c.376C>T) will allow us to establish the presence or absence of risk haplotypes in the manifestation of PCT associated or not with HIV infection. The results of this analysis, together with those previously obtained for ABCB1 drug transporter gene variants, will enable us to further conclude about the risk haplotype for PCT triggering.