Analysis of the role of NR1I2 gene variants in Hepatic Porphyrias onset.

MARTÍNEZ YUCOVSKY, K; MOLTRASIO, I; WOO, E; SANTILLAN, TOMÁS; YUN, SEBASTIÁN; MELITO, VIVIANA; VARELA LAURA; PARERA VICTORIA; BUZALEH, ANA MARIA; ZUCCOLI, JOHANNA

Mar del Plata

Congreso; LXXI Congreso de la Asociación Argentina de Investigación ClínicaLXX; 2023

Sociedad Argentina de Investigación Clinica

Porphyrias are due to heme enzymes deficiencies: Porphobilinogendeaminase in Acute Intermittent Porphyria (AIP), and Uroporphyrinogendecarboxylase in Porphyria Cutanea Tarda (PCT).Several factors, as therapeutic drugs, are needed for the onset ofthese hepatic diseases. NR1I2 gene encodes for PXR transporter;NM_022002.3:c.196C>T and NM_003889.4:c.-22-7659C>T variantsaffect the expression of many proteins like ABCB1 and CYP3A4.The aim was to evaluate the role of PXR SNVs in AIP andPCT triggering. Cohorts studied: Control, symptomatic AIP (S-AIP),asymptomatic AIP (L-AIP) and PCT. Individuals signed informedconsent. PCR-RFLP was used for genotyping. S-AIP allelic frequencyfor c.196C>T (0.13, p