Porphyria Cutanea Tarda and HIV infection. Influence of multidrug resistance (MDR1) polymorphisms in exon 12 and 21

MELITO, VIVIANA; ZUCCOLI, JOHANNA; LAVANDERA, JIMENA; ROSSETTI, MARÍA VICTORIA; PARERA, VICTORIA; BATLLE, ALCIRA; BUZALEH, ANA MARIA

Dusseldorf

Congreso; INTERNATIONAL CONGRESS ON PORPHYRINS & PORPHYRIAS; 2015

Porphyria Foundation

Porphyria Cutanea Tarda (PCT) is the most common Porphyria in Argentina, with a prevalence of 1:25,000. In this country, a high incidence (17%) of HIV infection in PCT patients is found. However, since almost all the HIV infected patients with PCT had additional risk factors for Porphyria manifestation, it is not yet clear if HIV infection is actually a precipitated factor for PCT. However, there have been many reports about PCT triggering after or during the therapy with antiretroviral drugs, even in the absence of a precipitating agent. A number of polymorphisms in the multidrug resistance transporter gene (MDR1) were found to be of clinical importance, among them: exon 12 (c.1236 C>T), 21  c.2677G>T/A) and 26 (c.3435 C>T) with high incidence in Caucasians. The frequency of the exon 26 was previously studied proposing the influence of this polymorphism on PCT manifestation independently on HIV infection. Our aim was to further investigate if exons 12 and 21 MDR1 polymorphisms could influence the onset of PCT studying healthy individuals and patients with PCT and PCT-HIV. PCR-FRLP assay was used. The frequency of exon 12 was 0.33 (control, n=39); 0.59 (PCT,  =29) and 0.35 (PCT-VIH, n=39), When exon 21 was analyzed, allelic frequency was 0.45 (control, n= 40); 0.48 (PCT, n= 41) and 0.62 (PCT-VIH, n=34). The differences between control vs PCT and PCT vs PCT-VIH for exon 12 and control vs PCT-VIH for exon 21 were significant (p