The heterogeneity among subgroups of haplogroup J influencing Alzheimer's disease risk.
The heterogeneity among subgroups of haplogroup J influencing Alzheimer's disease risk.
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单倍群 J 亚群之间的异质性影响阿尔茨海默病风险
DOI：
10.1016/j.jare.2021.02.003
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发表时间：
2021-11
影响因子：
10.7
通讯作者：
Alzheimer's Disease Neuroimaging Initiative
中科院分区：
文献类型：
--
作者：
Liu H;Zhang Y;Zhao H;Du Y;Liu X;Alzheimer's Disease Neuroimaging Initiative
单倍群J的亚群之间存在异质性，这种异质性影响阿尔茨海默病（AD）风险。
单倍群J之间的异质性影响轻度认知障碍（MCI）向AD的转化风险。
单倍群J的亚群之间的异质性与Aβ和磷酸化tau蛋白（p - tau）无关。
线粒体单倍群对阿尔茨海默病风险的影响尚未完全阐明，有必要在亚群水平上进行进一步研究。
本研究的目的是在亚群水平上评估线粒体单倍群与AD风险之间的关联。
总共使用线粒体DNA测序、阿尔茨海默病评定量表 - 认知分量表（ADAS - cog）、海马体积测量、低代谢收敛指数（HCI）以及MCI向AD转化比例测量对809名阿尔茨海默病神经影像学倡议（ADNI）的受试者进行了评估。
在AD组中，单倍群J的频率显著高于其他单倍群（p = 0.013）。根据单倍群J特异性单核苷酸多态性（SNPs）与ADAS - cog之间的相关性，单倍群J被分为四个亚群，分别包含加重病情的SNPs、保护性SNPs、既有加重又有保护性的SNPs或无关的SNPs。包含加重病情SNPs的亚群比其他亚群表现出更高的AD风险，这体现在ADAS - cog水平、海马体积、HCI以及MCI向AD转化比例上。
单倍群J的亚群之间存在异质性，这表明不同亚群表现出不同程度的AD风险。这项研究为线粒体单倍群与AD风险之间的相关性提供了新的见解。
There is heterogeneity among subgroups of haplogroup J which influences AD risk. The heterogeneity among haplogroup J influences the MCI-to-AD conversion risk. The heterogeneity among subgroups of haplogroup J is independent of Aβ and p-tau. The impact of mitochondrial haplogroups on Alzheimer’s disease (AD) risk has not been fully elucidated and warrants further investigation at the subgroup level. The aim of this research is to evaluate the association between mitochondrial haplogroups and AD risk in subgroups level. In total, 809 AD Neuroimaging Initiative subjects were assessed using mtDNA sequencing, the AD Assessment Scale-Cognitive Subscale (ADAS-cog), hippocampal volume measurements, the hypometabolic convergence index (HCI), and MCI-to-AD conversion proportion measurements. The frequency of haplogroup J was significantly higher than that of other haplogroups in the AD group (p = 0.013). According to the correlation between haplogroup J-specific SNPs and ADAS-cog, haplogroup J was divided into four subgroups harboring exacerbating SNPs, protective SNPs, both exacerbating and protective SNPs, or irrelevant SNPs. The subgroups harboring exacerbating SNPs exhibited higher AD risk represented by the levels of ADAS-cog, hippocampal volume, HCI, and MCI-to-AD conversion proportion than other subgroups. Heterogeneity existed among the subgroups of haplogroup J, which suggested that different subgroups exhibited different levels of AD risk. This study provides novel insights into the correlation between mitochondrial haplogroups and AD risk.
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