title: Mitochondrial DNA haplogroup D4b is a protective factor for ischemic stroke in Chinese Han population.
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.
authors.affiliation: School of life sciences of Zhengzhou University, Zhengzhou, 450052, China.
authors.forename: Dongzhi
authors.initials: D
authors.lastname: Yang
authors.forename: Qing
authors.initials: Q
authors.lastname: Wang
authors.forename: Yunshu
authors.initials: Y
authors.lastname: Shi
authors.forename: Yujia
authors.initials: Y
authors.lastname: Fan
authors.forename: Hong-Xiang
authors.initials: HX
authors.lastname: Zheng
authors.forename: Guoying
authors.initials: G
authors.lastname: Song
authors.forename: Qingchuan
authors.initials: Q
authors.lastname: Feng
authors.forename: Hong
authors.initials: H
authors.lastname: Zheng
authors.forename: Ying
authors.initials: Y
authors.lastname: He
mesh_terms: D002545:Brain Ischemia / Q000175:diagnosis / Q000235:genetics*; D016022:Case-Control Studies; D002681:China / Q000208:ethnology; D004272:DNA, Mitochondrial / Q000737:chemistry*; D005260:Female; D006239:Haplotypes; D006801:Humans; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D020521:Stroke / Q000175:diagnosis / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial
references.citation: Cerebrovasc Dis. 2010;29(6):528-37
references.pmid: 20357438
references.citation: Ann N Y Acad Sci. 2002 Apr;959:199-213
references.pmid: 11976197
references.citation: Lancet Neurol. 2010 May;9(5):498-503
references.pmid: 20362514
references.citation: Mitochondrion. 2007 Feb-Apr;7(1-2):29-38
references.pmid: 17306632
references.citation: Hum Mutat. 2009 Feb;30(2):E386-94
references.pmid: 18853457
references.citation: BMC Med Genet. 2008 Jul 01;9:57
references.pmid: 18593462
references.citation: PLoS One. 2008 Jun 11;3(6):e2421
references.pmid: 18545700
references.citation: Am J Hum Genet. 2002 Mar;70(3):635-51
references.pmid: 11836649
references.citation: Clin Dev Immunol. 2012;2012:832464
references.pmid: 22997526
references.citation: Eur J Hum Genet. 2004 Dec;12(12):1080-2
references.pmid: 15470367
references.citation: Psychiatry Res. 2013 Oct 30;209(3):279-83
references.pmid: 23374981
references.citation: Mitochondrion. 2007 Feb-Apr;7(1-2):72-9
references.pmid: 17257906
references.citation: Exp Clin Endocrinol Diabetes. 2001;109(7):361-4
references.pmid: 11573146
references.citation: Stroke. 2008 Jan;39(1):16-23
references.pmid: 18032738
references.citation: J Neurochem. 2009 May;109 Suppl 1:133-8
references.pmid: 19393019
references.citation: Mech Ageing Dev. 2000 Jul 31;116(2-3):65-76
references.pmid: 10996007
references.citation: Mol Biol Evol. 2002 Oct;19(10):1737-51
references.pmid: 12270900
references.citation: IUBMB Life. 2000 Oct-Nov;50(4-5):301-7
references.pmid: 11327324
references.citation: Genet Mol Res. 2012 Oct 09;11(4):3658-67
references.pmid: 23096691
references.citation: N Engl J Med. 2009 Apr 23;360(17):1718-28
references.pmid: 19369658
references.citation: EMBO J. 1998 Aug 17;17(16):4848-58
references.pmid: 9707444
references.citation: Free Radic Biol Med. 1999 Oct;27(7-8):891-900
references.pmid: 10515594
references.citation: J Mol Neurosci. 2014 Jul;53(3):493-9
references.pmid: 24198186
references.citation: PLoS One. 2009 Jul 29;4(7):e6423
references.pmid: 19641616
references.citation: J Neurol Sci. 2002 Jun 15;198(1-2):31-5
references.pmid: 12039661
references.citation: Pharmacogenomics. 2012 Apr;13(5):595-613
references.pmid: 22462751
references.citation: Hum Mol Genet. 2008 Dec 15;17(24):4001-11
references.pmid: 18806273
references.citation: Eur J Hum Genet. 2009 Nov;17(11):1448-53
references.pmid: 19417766
references.citation: Stroke. 1993 Jan;24(1):35-41
references.pmid: 7678184
references.citation: Lancet. 1998 Aug 8;352(9126):455-6
references.pmid: 9708761
references.citation: Stroke. 2005 Oct;36(10):2275-7
references.pmid: 16166573
references.citation: Hum Genet. 2007 May;121(3-4):347-56
references.pmid: 17308896
references.citation: Atherosclerosis. 2004 Aug;175(2):281-6
references.pmid: 15262184
references.citation: Int J Surg. 2010;8(5):336-41
references.pmid: 20171303