The heterogeneity among subgroups of haplogroup J influencing Alzheimer’s disease risk,Journal of Advanced Research

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The heterogeneity among subgroups of haplogroup J influencing Alzheimer’s disease risk
Journal of Advanced Research ( IF 11.4 ) Pub Date : 2021-02-17 , DOI: 10.1016/j.jare.2021.02.003
HaoChen Liu ₁ , Yixuan Zhang ₁ , Huimin Zhao ₁ , Yanan Du ₁ , XiaoQuan Liu ₁ ,

Affiliation

Introduction

The impact of mitochondrial haplogroups on Alzheimer’s disease (AD) risk has not been fully elucidated and warrants further investigation at the subgroup level.

Objectives

The aim of this research is to evaluate the association between mitochondrial haplogroups and AD risk in subgroups level.

Methods

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.

Results

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.

Conclusion

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.

中文翻译：

单倍群 J 亚群之间的异质性影响阿尔茨海默病风险

介绍

线粒体单倍群对阿尔茨海默病 (AD) 风险的影响尚未完全阐明，需要在亚组水平上进行进一步研究。

目标

本研究的目的是评估线粒体单倍群与亚群水平 AD 风险之间的关联。

方法

总共使用 mtDNA 测序、AD 评估量表认知子量表 (ADAS-cog)、海马体积测量、代谢低下收敛指数 (HCI) 和 MCI 到 AD 转换比例测量对 809 名 AD 神经影像计划受试者进行了评估。

结果

AD 组中单倍群 J 的频率显着高于其他单倍群 (p = 0.013)。根据单倍群 J 特异性 SNP 与 ADAS-cog 之间的相关性，单倍群 J 分为四个亚组，其中包含恶化 SNP、保护性 SNP、恶化和保护性 SNP 或不相关 SNP。与其他亚组相比，含有恶化 SNP 的亚组表现出更高的 AD 风险，具体表现为 ADAS-cog 水平、海马体积、HCI 和 MCI 至 AD 转换比例。