Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies
Mitochondrial DNA haplogroups and susceptibility to AD and dementia with Lewy bodies
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DOI：
10.1212/wnl.55.2.302
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发表时间：
2000-07-25
期刊：
影响因子：
9.9
通讯作者：
Turnbull, DM
中科院分区：
文献类型：
--
作者：
Chinnery, PF;Taylor, GA;Turnbull, DM
作者分析了经病理证实的AD（n = 185）、路易体痴呆（DLB; n = 84）和对照组（n = 179）的核遗传危险因素（载脂蛋白E基因型）与线粒体DNA（mtDNA）序列变异之间的关系。特定的欧洲mtDNA单倍型群和A4336 G突变与AD风险增加无关。与对照组相比，mtDNA单倍型组II在DLB患者中的比例过高。需要更多的研究来阐明这种关联的重要性。
The authors analyzed the relationship between nuclear genetic risk factors (apolipoprotein E genotype) and mitochondrial DNA (mtDNA) sequence variants in pathologically proved cases of AD (n = 185), dementia with Lewy bodies (DLB; n = 84), and control subjects (n = 179). Specific European mtDNA haplogroups and the A4336G mutation were not associated with an increased risk of AD. mtDNA haplogroup Il was overrepresented in the DLB patients when compared with control subjects. Additional studies are needed to clarify the significance of the association.