THE ROLE OF NM_004827.3:c.421C>A VARIANT OF ABCG2 GENE IN THE TRIGGERING OF PORPHYRIA CUTANEA TARDA IN HIV-INFECTED INDIVIDUALS

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

Congreso Virtual

Congreso; LXV REUNIÓN ANUAL DE LA SOCIEDAD ARGENTINA DE INV...; 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 variantsare present in a high frequency. Porphyria Cutanea Tarda (PCT) iscaused by a deficiency in Uroporphyrinogen decarboxylase; thereare 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 areHIV infected individuals. Previously, the influence of ABCB1 geneticvariants, a transporter of the same family as ABCG2, in the onset ofPCT in HIV carriers was reported. The aim was to evaluate the roleof the NM_004827.3:c.421C>A (rs2231142) variant of ABCG2 genein the association PCT-HIV. A population of control, HIV, PCT andPCT-HIV individuals was studied. Genotyping was done by PCRRFLP. 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 higherthan PCT and HIV values (0.05; pA,NM_004827.3:c.376C>T) will allow us to establish the presence orabsence of risk haplotypes in the manifestation of PCT associatedor not with HIV infection. The results of this analysis, together withthose previously obtained for ABCB1 drug transporter gene variants, will enable us to further conclude about the risk haplotype for PCT triggering.