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Role of CYP1A1, ABCG2, CYP24A1 and VDR gene polymorphisms on the evaluation of cardiac iron overload in thalassaemia patients

Allegra, Saraha; Cusato, Jessicaa; De Francia, Silviab; Longo, Filomenac; Pirro, Elisab; Massano, Davidec; Avataneo, Valeriaa; De Nicolò, Amedeoa; Piga, Antonioc,*; D’Avolio, Antonioa,*

doi: 10.1097/FPC.0000000000000348

Objectives Iron-burden-induced arrhythmia and heart failure are among the leading causes of morbidity and mortality in β-thalassaemia major patients. T2* cardiac magnetic resonance remains the only reliable noninvasive method for the heart iron excess assessment. We explored the role of single nucleotide polymorphisms involved in vitamin D metabolism, transport and activity and in deferasirox (DFX) metabolism on cardiac iron burden.

Patients and methods One hundred and five β-thalassaemia patients, treated with DFX, were enrolled in the present study. Drug plasma C trough was measured by a high-performance liquid chromatography-ultraviolet method. Allelic discrimination was carried out using the real-time PCR.

Results CYP1A1*1189 CC, ABCG2 421 GA, CYP24A1 8620 GG and VDR TaqI CC single nucleotide polymorphisms influenced T2* values. Age, serum ferritin, ABCG2 421 GA, ABCG2 1194 +928 TC/CC, CYP24A1 22776 TT and VDR TaqI TC/CC were retained in linear regression model.

Conclusion Our results suggested, for the first time, the role of DFX and vitamin D pharmacogenetics on cardiac iron overload.

aUnit of Infectious Diseases, Department of Medical Sciences, Amedeo di Savoia Hospital, University of Turin, Turin

bDepartment of Biological and Clinical Sciences

cDepartment of Paediatrics, Centre for Microcitemie, University of Turin, S. Luigi Gonzaga Hospital, Orbassano, Italy

* Antonio Piga and Antonio D’Avolio contributed equally to the writing of this article.

Correspondence to Sarah Allegra, BSc, MSc, Laboratory of Clinical Pharmacology and Pharmacogenetics, Unit of Infectious Diseases, Department of Medical Sciences, University of Torino, ASL Città di Torino, Amedeo di Savoia Hospital, Corso Svizzera 164, 10149 Turin, Italy Tel: +39 011 439 3979; fax: +39 011 439 3882; e-mail:

Received May 4, 2018

Accepted August 15, 2018

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