ANALYSIS OF THE ROLE OF NR1I2 GENE VARIANTS IN HEPATIC PORPHYRIAS ONSET.

MARTÍNEZ YUCOVSKY, KIARA; MOLTRASIO, ISABELLA; WOO, ELIZABETH; SANTILLAN, TOMÁS; YUN, SEBASTIAN; MELITO, VIVIANA; VARELA, LAURA; PARERA, VICTORIA; BUZALEH ANA MARIA; ZUCCOLI, JOHANNA

Mar del Plata

Congreso; CONGRESO DE BIOCIENCIAS 2023; 2023

Sociedad Argentina de Investigación Clínica

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