title: Glutathione S-transferase M1 gene polymorphisms are associated with cardiac iron deposition in patients with beta-thalassemia major.
abstract: Patients with beta-thalassemia (thal) major are subject to peroxidative tissue injury by iron overload. Glutathione S-transferases work as antioxidants, and their activity is determined genetically. In this study, we used multiplex polymerase chain reaction (m-PCR) to analyze polymorphisms of two endogenous antioxidant agents, glutathione S-transferase M1 (GSTM1) and glutathione S-transferase T1 (GSTT1), and to determine their roles in 41 patients with beta-thal major. Our results showed that the GSTM1 and GSTT1 null genotypes were not associated with any incidence of endocrine dysfunction (including diabetes mellitus, hypogonadism, hypothyroidism, and growth hormone deficiency), liver function, or impaired left ventricular ejection fraction (LVEF). The GSTM1 null genotype, but not the GSTT1 null genotype, was associated with a decreased signal intensity ratio on cardiac magnetic resonance imaging (MRI). Our results suggest that genetic variations of the GSTM1 enzyme are associated with cardiac iron deposition in patients with beta-thal major.
authors.affiliation: Department of Pediatrics, China Medical University Hospital, Taichung, Taiwan.
authors.forename: Kang-Hsi
authors.initials: KH
authors.lastname: Wu
authors.forename: Jan-Gowth
authors.initials: JG
authors.lastname: Chang
authors.forename: Yung-Jen
authors.initials: YJ
authors.lastname: Ho
authors.forename: Shu-Fen
authors.initials: SF
authors.lastname: Wu
authors.forename: Ching-Tien
authors.initials: CT
authors.lastname: Peng
mesh_terms: D000293:Adolescent; D000328:Adult; D009202:Cardiomyopathies / Q000201:enzymology / Q000209:etiology / Q000235:genetics*; D015913:Chelation Therapy; D002648:Child; D003131:Combined Modality Therapy; D015897:Comorbidity; D000077543:Deferiprone; D003676:Deferoxamine / Q000627:therapeutic use; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D005982:Glutathione Transferase / Q000235:genetics*; D006801:Humans; D007501:Iron / Q000378:metabolism; D007502:Iron Chelating Agents / Q000627:therapeutic use; D019190:Iron Overload / Q000201:enzymology* / Q000209:etiology / Q000235:genetics; D008297:Male; D018384:Oxidative Stress; D011110:Polymorphism, Genetic; D011728:Pyridones / Q000627:therapeutic use; D013318:Stroke Volume; D065227:Transfusion Reaction; D017086:beta-Thalassemia / Q000150:complications* / Q000188:drug therapy / Q000201:enzymology / Q000628:therapy
chemical_list: D000077543:Deferiprone; D003676:Deferoxamine; D005982:Glutathione Transferase; D007501:Iron; D007502:Iron Chelating Agents; D011728:Pyridones; C413545:glutathione S-transferase T1