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Mitochondrial DNA haplogroup D4b is a protective factor for ischemic stroke in Chinese Han population

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Abstract

Mitochondrial DNA (mtDNA) haplogroups affect the assembly and stability of the mitochondrial respiratory chain, which is potentially related to susceptibility to ischemic stroke (IS). However, the role of mtDNA in IS has not been comprehensively studied. The purpose of this study was to explore whether mtDNA polymorphisms and haplogroups are involved in the etiology of IS in the Chinese Han population. We recruited 200 patients with IS and 200 matched controls and genotyped them for 18 mtDNA single nucleotide polymorphisms defining the major Eastern Asian haplogroups by SNaPshot minisequencing. We also sequenced the hypervariable segment I (HVS-I), position 16051–16400. The prevalence of haplogroup D4b was significantly lower in IS patients than in healthy controls (0 and 8 %, respectively, corrected P = 2 × 10−5, odds ratio = 0.028, 95 % confidence interval = 0.002–0.468).The positive association between haplogroup D4b and IS may be related to the protective effect of haplogroup D4b against oxidative damage, which decreases the risk of IS. Our study provides the first evidence that haplogroup D4b is a potential genetic protective factor for IS in the Chinese Han population.

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Acknowledgments

We acknowledge the technical assistance of staff members of the Neurology Department of the First Affiliated Hospital of Zhengzhou University. We also thank all the members of Center for Human Genetics Research, Shanghai Genesky Bio-Tech Co, Ltd.

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None to declare.

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Authors and Affiliations

  1. School of life sciences of Zhengzhou University, Zhengzhou, 450052, China

    Dongzhi Yang

  2. Department of Cell Biology and Medical Genetics, Basic Medical College of Zhengzhou University, Zhengzhou, 450052, China

    Qing Wang, Yunshu Shi, Yujia Fan, Guoying Song, Qingchuan Feng, Hong Zheng & Ying He

  3. Ministry of Education, Key Laboratory of Contemporary Anthropology, Center for Evolutionary Biology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, China

    Hong-Xiang Zheng

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  1. Dongzhi Yang
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  2. Qing Wang
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Correspondence to Hong Zheng or Ying He.

Additional information

Communicated by S. Hohmann.

Dongzhi Yang and Qing Wang are the first co-author and Yunshu Shi is the second author.

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Yang, D., Wang, Q., Shi, Y. et al. Mitochondrial DNA haplogroup D4b is a protective factor for ischemic stroke in Chinese Han population. Mol Genet Genomics 289, 1241–1246 (2014). https://doi.org/10.1007/s00438-014-0884-7

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  • DOI: https://doi.org/10.1007/s00438-014-0884-7

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