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; INTERNACIONAL CONFERENCE ON PORPHYRINS AND PORPHYRIAS 2015; 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 olymorphism on PCT manifestation independently on HIV infection. Our aim was to further investigate ifexons 12 and 21 MDR1 polymorphisms could influence the onset of PCT studyinghealthy individuals and patients with PCT and PCT-HIV. PCR-FRLP assay wasused. The frequency of exon 12 was 0.33 (control, n=39); 0.59 (PCT, n=29) and0.35 (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 differencesbetween control vs PCT and PCT vs PCT-VIH for exon 12 and control vs PCT-VIHfor exon 21 were significant (p