No consistent evidence for association between mtDNA variants and Alzheimer disease

被引：37

作者：

Hudson, G. ^{[1
]}

Sims, R. ^{[2
]}

Harold, D. ^{[2
]}

Chapman, J. ^{[2
]}

Hollingworth, P. ^{[2
]}

Gerrish, A. ^{[2
]}

Russo, G. ^{[2
]}

Hamshere, M. ^{[2
]}

Moskvina, V. ^{[2
]}

Jones, N. ^{[2
]}

Thomas, C. ^{[2
]}

Stretton, A. ^{[2
]}

Holmans, P. A. ^{[2
]}

O'Donovan, M. C. ^{[2
]}

Owen, M. J. ^{[2
]}

Williams, J. ^{[2
]}

Chinnery, P. F. ^{[1
]}

机构：

[1] Newcastle Univ, Inst Med Genet, Newcastle Upon Tyne NE1 7RU, Tyne & Wear, England

[2] Cardiff Univ, Med Res Council Ctr Neuropsychiatr Genet & Genom, Neurosci & Mental Hlth Res Inst, Dept Psychol Med & Neurol,Sch Med, Cardiff, S Glam, Wales

来源：

NEUROLOGY | 2012年 / 78卷 / 14期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

MITOCHONDRIAL-DNA HAPLOGROUPS; HEREDITARY OPTIC NEUROPATHY; RECOMBINATION; POPULATION; LINKAGE; POWER;

D O I：

10.1212/WNL.0b013e31824e8f1d

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

Objective: Although several studies have described an association between Alzheimer disease (AD) and genetic variation of mitochondrial DNA (mtDNA), each has implicated different mtDNA variants, so the role of mtDNA in the etiology of AD remains uncertain. Methods: We tested 138 mtDNA variants for association with AD in a powerful sample of 4,133 AD case patients and 1,602 matched controls from 3 Caucasian populations. Of the total population, 3,250 case patients and 1,221 elderly controls met the quality control criteria and were included in the analysis. Results: In the largest study to date, we failed to replicate the published findings. Meta-analysis of the available data showed no evidence of an association with AD. Conclusion: The current evidence linking common mtDNA variations with AD is not compelling. Neurology (R) 2012;78:1038-1042

引用

页码：1038 / 1042

页数：5

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