title: Associations of mitochondrial haplogroups and mitochondrial DNA copy numbers with end-stage renal disease in a Han population.
abstract: Mitochondrial DNA (mtDNA) is closely related to mitochondrion function, and variations have been suggested to be involved in pathogenesis of complex diseases. The present study sought to elucidate mitochondrial haplogroups and mtDNA copy number in end-stage renal disease (ESRD) in a Han population. First, the mitochondrial haplogroups of 37 ESRD patients were clustered into several haplogroups, and haplogroup A & D were taken as the candidate risk haplogroups for ESRD. Second, the frequencies of A and D were assessed in 344 ESRD patients and 438 healthy controls, respectively. Haplogroup D was found to be risk maker for ESRD in young subjects (<30 years) with an OR of 2.274. Finally, intracellular and cell-free mtDNA copy numbers were evaluated with quantitative-PCR. The ESRD patients exhibited greater cell-free mtDNA contents than the healthy controls but less intracellular mtDNA. Haplogroup D exhibited a further increase in cell-free mtDNA content and a decrease in intracellular mtDNA content among the ESRDs patients. Our findings suggest that mtNDA haplogroup D may contributes to pathogenesis of early-onset ESRD through alterations of mtDNA copy numbers.
authors.affiliation: a Medical School of Nanjing University , Nanjing , Jiangsu Province , China.|b Jiangsu Key Laboratory of Molecular Medicine, Department of Medical Genetics , Nanjing University , Nanjing , Jiangsu Province , China.
authors.forename: Yuheng
authors.initials: Y
authors.lastname: Zhang
authors.affiliation: a Medical School of Nanjing University , Nanjing , Jiangsu Province , China.|b Jiangsu Key Laboratory of Molecular Medicine, Department of Medical Genetics , Nanjing University , Nanjing , Jiangsu Province , China.
authors.forename: Ying
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: a Medical School of Nanjing University , Nanjing , Jiangsu Province , China.|b Jiangsu Key Laboratory of Molecular Medicine, Department of Medical Genetics , Nanjing University , Nanjing , Jiangsu Province , China.
authors.forename: Shuzhen
authors.initials: S
authors.lastname: Wen
authors.affiliation: c Department of Endocrinology , Nanjing First Hospital, Nanjing Medical University , Nanjing , China.
authors.forename: Rengna
authors.initials: R
authors.lastname: Yan
authors.affiliation: a Medical School of Nanjing University , Nanjing , Jiangsu Province , China.|b Jiangsu Key Laboratory of Molecular Medicine, Department of Medical Genetics , Nanjing University , Nanjing , Jiangsu Province , China.
authors.forename: Qinglan
authors.initials: Q
authors.lastname: Yang
authors.affiliation: a Medical School of Nanjing University , Nanjing , Jiangsu Province , China.|b Jiangsu Key Laboratory of Molecular Medicine, Department of Medical Genetics , Nanjing University , Nanjing , Jiangsu Province , China.
authors.forename: Huimei
authors.initials: H
authors.lastname: Chen
mesh_terms: D000328:Adult; D044466:Asian People / Q000208:ethnology / Q000235:genetics*; D002474:Cell-Free System; D002681:China / Q000208:ethnology; D056915:DNA Copy Number Variations; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D056726:Genetic Association Studies / Q000379:methods*; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D007676:Kidney Failure, Chronic / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D055815:Young Adult
chemical_list: D004272:DNA, Mitochondrial
keywords: Copy number; Mitochondrial DNA; end-stage renal disease; haplogroup