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- W2892051230 abstract "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 Ctrough 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." @default.
- W2892051230 created "2018-09-27" @default.
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- W2892051230 date "2018-09-01" @default.
- W2892051230 modified "2023-10-17" @default.
- W2892051230 title "Role of CYP1A1, ABCG2, CYP24A1 and VDR gene polymorphisms on the evaluation of cardiac iron overload in thalassaemia patients" @default.
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- W2892051230 doi "https://doi.org/10.1097/fpc.0000000000000348" @default.
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