title: Association of genetic variations in the mitochondrial D-loop with β-thalassemia.
abstract: Beta-thalassemia, one of the most common single-gene disorders, is the result of reduced or absent production of β-globin chains. Patients with β-thalassemia show weak genotype-phenotype correlations. Mitochondrial DNA polymorphisms are a potential source for different physiological and pathological characteristics and have been found to be associated as genetic modifiers with various pathophysiologies, including cancers and neurodegenerative diseases. A group of 35 patients with β-thalassemia was investigated for the presence of mtDNA D-loop polymorphisms in comparison with 504 normal controls. We found four mtDNA D-loop polymorphisms at nucleotides 16,069C > T, 16,189T > C, 16,319G > A, and 16,519T > C that showed significant differences between patients and normal subjects. There is no strong proof for the association of these polymorphisms with β-thalassemia. It is hypothesized that iron overload or its effects on sequestration of calcium or zinc can lead to oxidative stress and ROS production inside the mitochondria. Therefore, possible accompanying of mtDNA polymorphisms with β-thalassemia disease may complicate the genotype-phenotype correlation and could affect the clinical outcomes in the patients.
authors.affiliation: a Department of Medical Genetics , Special Medical Center , Tehran , Islamic Republic of Iran .
authors.forename: Leila
authors.initials: L
authors.lastname: Jamali
authors.affiliation: b S nyder Institute for Chronic Disorders, University of Calgary , Calgary , Alberta , Canada , and.
authors.forename: Mohammad Mehdi
authors.initials: MM
authors.lastname: Banoei
authors.affiliation: a Department of Medical Genetics , Special Medical Center , Tehran , Islamic Republic of Iran .
authors.forename: Elham
authors.initials: E
authors.lastname: Khalili
authors.affiliation: a Department of Medical Genetics , Special Medical Center , Tehran , Islamic Republic of Iran .
authors.forename: Sepideh
authors.initials: S
authors.lastname: Dadgar
authors.affiliation: a Department of Medical Genetics , Special Medical Center , Tehran , Islamic Republic of Iran .|c Department of Medical Genetics , National Institute of Genetic Engineering and Biotechnology , Tehran , Islamic Republic of Iran.
authors.forename: Massoud
authors.initials: M
authors.lastname: Houshmand
mesh_terms: D016022:Case-Control Studies; D004272:DNA, Mitochondrial / Q000737:chemistry* / Q000235:genetics*; D056726:Genetic Association Studies; D014644:Genetic Variation; D006801:Humans; D009154:Mutation / Q000235:genetics; D009690:Nucleic Acid Conformation; D017086:beta-Thalassemia / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
keywords: D-loop variations; mtDNA and thalassemia; mtDNA polymorphisms