Brain activity is highly structured within local microcircuits and brain-wide networks,involving exquisite coordination across multiple brain regions in both superficial and deep structures^([1]).To understand how bra...Brain activity is highly structured within local microcircuits and brain-wide networks,involving exquisite coordination across multiple brain regions in both superficial and deep structures^([1]).To understand how brain represents,transforms and communicates in-展开更多
通过全基因组关联分析(genome-wide association study,GWAS)探索中国汉族人群疼痛诱发脑岛神经响应个体差异背后的遗传影响因素.研究共纳入333名经质控合格且同时采集了基因和脑影像数据的中国汉族健康被试,基因型数据经质控插补后包含...通过全基因组关联分析(genome-wide association study,GWAS)探索中国汉族人群疼痛诱发脑岛神经响应个体差异背后的遗传影响因素.研究共纳入333名经质控合格且同时采集了基因和脑影像数据的中国汉族健康被试,基因型数据经质控插补后包含5270947个单核苷酸多态性(single nucleotide polymorphism,SNP)位点,脑影像数据为痛觉刺激任务态功能磁共振成像(functional magnetic resonance imaging,fMRI)数据.首先基于f MRI数据利用一般线性模型(general linear model,GLM)获得痛觉刺激条件下每位被试左侧和右侧脑岛区域各自的平均激活值以及双侧脑岛的平均激活值,并将其作为GWAS表型数据分别对5270947个SNP逐一计算脑岛激活与SNP之间的关联.结果显示,在P<5×10^(-6)阈值下,10个独立SNP位点与左侧脑岛的激活水平存在显著关联,7个独立SNP位点与右侧脑岛的激活水平存在显著关联,12个独立SNP位点与双侧脑岛的平均激活水平存在显著关联.所有显著位点可注释到9个基因上,其中BACE1基因已被报道与疼痛相关,其他基因与脑影像表型或常见神经精神疾病相关.这些发现为深入理解疼痛诱发脑岛神经响应个体差异背后的遗传机制提供了有力证据.展开更多
Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational researc...Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center （i.e., the brain） in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be dis- cussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer＇s disease and autism spectrum disorder.展开更多
文摘Brain activity is highly structured within local microcircuits and brain-wide networks,involving exquisite coordination across multiple brain regions in both superficial and deep structures^([1]).To understand how brain represents,transforms and communicates in-
基金国家自然科学基金委员会创新研究群体科学基金(61721092)国家自然科学基金(81327802+4 种基金81771913)国家重点基础研究发展计划(973)(2015CB7556003)湖北省中青年创新研究群体科学基金(T201520)武汉光电国家研究中心主任基金(Wuhan National Laboratory for OptoelectronicsWNLO)资助项目~~
文摘通过全基因组关联分析(genome-wide association study,GWAS)探索中国汉族人群疼痛诱发脑岛神经响应个体差异背后的遗传影响因素.研究共纳入333名经质控合格且同时采集了基因和脑影像数据的中国汉族健康被试,基因型数据经质控插补后包含5270947个单核苷酸多态性(single nucleotide polymorphism,SNP)位点,脑影像数据为痛觉刺激任务态功能磁共振成像(functional magnetic resonance imaging,fMRI)数据.首先基于f MRI数据利用一般线性模型(general linear model,GLM)获得痛觉刺激条件下每位被试左侧和右侧脑岛区域各自的平均激活值以及双侧脑岛的平均激活值,并将其作为GWAS表型数据分别对5270947个SNP逐一计算脑岛激活与SNP之间的关联.结果显示,在P<5×10^(-6)阈值下,10个独立SNP位点与左侧脑岛的激活水平存在显著关联,7个独立SNP位点与右侧脑岛的激活水平存在显著关联,12个独立SNP位点与双侧脑岛的平均激活水平存在显著关联.所有显著位点可注释到9个基因上,其中BACE1基因已被报道与疼痛相关,其他基因与脑影像表型或常见神经精神疾病相关.这些发现为深入理解疼痛诱发脑岛神经响应个体差异背后的遗传机制提供了有力证据.
基金supported by the grant from the National Basic Research Program of China (973 Program, Grant No. 2014CB964901) awarded to HL from the Ministry of Science and Technology of China
文摘Neurological disorders comprise a variety of complex diseases in the central nervous system, which can be roughly classified as neurodegenerative diseases and psychiatric disorders. The basic and translational research of neurological disorders has been hindered by the difficulty in accessing the pathological center （i.e., the brain） in live patients. The rapid advancement of sequencing and array technologies has made it possible to investigate the disease mechanism and biomarkers from a systems perspective. In this review, recent progresses in the discovery of novel risk genes, treatment targets and peripheral biomarkers employing genomic technologies will be dis- cussed. Our major focus will be on two of the most heavily investigated neurological disorders, namely Alzheimer＇s disease and autism spectrum disorder.
