title: Mitochondrial DNA haplogroups and somatic mutations are associated with lung cancer in patients from Southwest China.
abstract: Mitochondrial DNA mutations play crucial roles in the pathogenesis and progression of human malignancies. Therefore, to determine whether maternal background or mitochondrial DNA somatic mutations were essential cofactors in the lung cancer of Chinese patients as well, the complete mitochondrial DNA displacement loop of the primary cancerous, matched para-cancerous normal and distant normal tissues for 79 Chinese patients with lung cancer were analyzed in this study. Our results indicated that the higher detected frequency of haplogroups prevalent in southern East Asia (53.16%; 42/79) versus those of northern East Asia in the studied population supported the southern East Asian characteristics of the Chinese lung cancer group. Further statistical analysis revealed that the haplogroups F* and G* contributed to the susceptibility to lung cancer in Chinese patients. In addition, by comparing sequences from different tissues of the same patients, a total of eight somatic mutations from six patients were detected. Combined with the fourteen somatic mutations identified in our previous study, the somatic mutation spectrum of the 79 Chinese patients with lung cancer was 25.32% (20/79). Our results suggest that mitochondrial DNA haplogroups and somatic mutations are associated with lung cancer in patients from Yunnan, Southwest China, and that somatic mitochondrial DNA mutations in the displacement loop can serve as potential biomarkers for clinical utility.
authors.affiliation: Department of Anesthesiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China.
authors.forename: Y
authors.initials: Y
authors.lastname: Fang
authors.affiliation: Kunming Maternal and Child Health Center, Kunming, Yunnan Province, China.
authors.forename: H Y
authors.initials: HY
authors.lastname: Yang
authors.affiliation: Clinical Laboratory Department, Cancer Hospital of Shanxi, Taiyuan, Shanxi, China.
authors.forename: Y H
authors.initials: YH
authors.lastname: Shi
authors.affiliation: Department of Medical Service, PLA Unit 65176, Dalian, Liaoning, China.
authors.forename: J H
authors.initials: JH
authors.lastname: Cui
authors.affiliation: Department of Cardiology and Clinical Laboratory Department, 211th Hospital of the PLA, Harbin, Heilongjiang, China.
authors.forename: L Y
authors.initials: LY
authors.lastname: Li
authors.affiliation: Department of Cardiology and Clinical Laboratory Department, 211th Hospital of the PLA, Harbin, Heilongjiang, China.
authors.forename: Y C
authors.initials: YC
authors.lastname: Xu
authors.affiliation: Department of Anesthesiology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan Province, China jianlinshaoydyy@163.com.
authors.forename: J L
authors.initials: JL
authors.lastname: Shao
mesh_terms: D044466:Asian People; D001483:Base Sequence; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D054629:Genome, Mitochondrial; D006239:Haplotypes; D006801:Humans; D008175:Lung Neoplasms / Q000208:ethnology / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D010802:Phylogeny
chemical_list: D004272:DNA, Mitochondrial