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Exome sequencing greatly expedites the progressive research of Mendelian diseases
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《医学前沿(英文)》 2014年 第8卷 第1期 页码 42-57 doi: 10.1007/s11684-014-0303-9
The advent of whole-exome sequencing (WES) has facilitated the discovery of rare structure and functional genetic variants. Combining exome sequencing with linkage studies is one of the most efficient strategies in searching disease genes for Mendelian diseases. WES has achieved great success in the past three years for Mendelian disease genetics and has identified over 150 new Mendelian disease genes. We illustrate the workflow of exome capture and sequencing to highlight the advantages of WES. We also indicate the progress and limitations of WES that can potentially result in failure to identify disease-causing mutations in part of patients. With an affordable cost, WES is expected to become the most commonly used tool for Mendelian disease gene identification. The variants detected cumulatively from previous WES studies will be widely used in future clinical services.
关键词: genetics whole-exome sequencing Mendelian disease disease gene
Type 2 diabetes is causally associated with depression: a Mendelian randomization analysis
Liping Xuan, Zhiyun Zhao, Xu Jia, Yanan Hou, Tiange Wang, Mian Li, Jieli Lu, Yu Xu, Yuhong Chen, Lu Qi, Weiqing Wang, Yufang Bi, Min Xu
《医学前沿(英文)》 2018年 第12卷 第6期 页码 678-687 doi: 10.1007/s11684-018-0671-7
Type 2 diabetes (T2D) has been associated with a high prevalence of depression. We aimed to determine the causal relation by performing a Mendelian randomization (MR) study using 34 T2D risk genetic variants validated in East Asians as the instrumental variable (IV). An MR analysis was performed involving 11 506 participants from a large longitudinal study. The T2D genetic risk score (GRS) was built using the 34 typical T2D common variants. We used T2D_GRS as the IV estimator and performed inverse-variance weighted (IVW) and Egger MR analysis. The T2D_GRS was found to be associated with depression with an OR of 1.21 (95% CI: 1.07–1.37) after adjustments for age, sex, body mass index, current smoking and drinking, physical activity, education, and marital status. Using T2D_GRS as the IV, we similarly found a causal relationship between genetically determined T2D and depression (OR: 1.84, 95% CI: 1.25–2.70). Though we found no association between the combined effect of the genetic IVs for T2D and depression with Egger MR (OR: 0.95, 95% CI: 0.42–2.14), we found an association for T2D and depression with IVW (OR: 1.75, 95% CI: 1.31–2.46) after excluding pleiotropic SNPs. Overall, the MR analyses provide evidence inferring a potential causal relationship between T2D and depression.
关键词: causal modeling depression Mendelian randomization type 2 diabetes
et’s disease in a Chinese population
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《医学前沿(英文)》 2012年 第6卷 第4期 页码 354-359 doi: 10.1007/s11684-012-0234-2
Beh?et’s disease is defined as a multisystemic inflammatory disease. Although the precise pathogenesis and etiology is still a mystery, accumulating evidence shows that genetic variants of immune-related genes have a profound influence on the development of Beh?et’s disease. To explore the genetic factors for Beh?et’s disease, our group investigated the association of Beh?et’s disease with multiple immune response genes and has identified multiple Beh?et’s disease-related immunoregulatory pathways in the Chinese Han population. A large number of gene polymorphisms were studied including STAT4, IL23R, CD40, CCR1/CCR3, STAT3, OPN, IL17, JAK2, MCP-1, CTLA4, PD-1, PD-L1, PD-L2, TGRBR3, CCR6, PTPN22, FCRL3, IRF5, SUMO4 and UBAC2. Significant associations were found between Beh?et’s disease and STAT4, IL23R, CD40, CCR1/CCR3, STAT3, MCP-1, TGFBR3, FCRL3, SUMO4, UBAC2. These genetic predisposition studies support an important role for both lymphocyte differentiation as well as ubiquitination pathways. These findings are helpful in elucidating the pathogenesis of Beh?et’s disease and hopefully will allow the development of novel treatment regimes.
Heterogeneity of chronic obstructive pulmonary disease: from phenotype to genotype
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《医学前沿(英文)》 2013年 第7卷 第4期 页码 425-432 doi: 10.1007/s11684-013-0295-x
Chronic obstructive pulmonary disease (COPD) is one of the leading causes of morbidity and mortality throughout the world and is mainly characterized by persistent airflow limitation. Given that multiple systems other than the lung can be impaired in COPD patients, the traditional FEV1/FVC ratio shows many limitations in COPD diagnosis and assessment. Certain heterogeneities are found in terms of clinical manifestations, physiology, imaging findings, and inflammatory reactions in COPD patients; thus, phenotyping can provide effective information for the prognosis and treatment. However, phenotypes are often based on symptoms or pathophysiological impairments in late-stage COPD, and the role of phenotypes in COPD prevention and early diagnosis remains unclear. This shortcoming may be overcome by the potential genotypes defined by the heterogeneities in certain genes. This review briefly describes the heterogeneity of COPD, with focus on recent advances in the correlations between genotypes and phenotypes. The potential roles of these genotypes and phenotypes in the molecular mechanisms and management of COPD are also elucidated.
关键词: chronic obstructive pulmonary disease heterogeneity phenotype genotype prediction
Acupuncture for the management of dry eye disease
《医学前沿(英文)》 2022年 第16卷 第6期 页码 975-983 doi: 10.1007/s11684-022-0923-4
Exploration of Strategies for Chronic Disease Prevention and Control and Relevant System Development
Long-de Wang
《工程管理前沿(英文)》 2015年 第2卷 第1期 页码 2-12 doi: 10.15302/J-FEM-2015002
关键词: chronic disease prevention and control strategy and system construction
Astrocytes in depression and Alzheimer’s disease
《医学前沿(英文)》 2021年 第15卷 第6期 页码 829-841 doi: 10.1007/s11684-021-0875-0
关键词: astrocytes depression Alzheimer’s disease roles mechanisms
Minimal residual disease in solid tumors: an overview
《医学前沿(英文)》 2023年 第17卷 第4期 页码 649-674 doi: 10.1007/s11684-023-1018-6
关键词: MRD solid tumor CTC ctDNA
免疫球蛋白G N-糖基化与代谢特征之间的双向因果关联——一项孟德尔随机化研究 Article
孟晓妮, 曹维杰, 刘迪, Isinta Elijah Maranga, 邢薇佳, 侯海峰, 徐希柱, 宋曼殳, 王友信
《工程(英文)》 2023年 第26卷 第7期 页码 74-88 doi: 10.1016/j.eng.2022.11.004
Zhonghua Sun
《医学前沿(英文)》 2011年 第5卷 第3期 页码 254-270 doi: 10.1007/s11684-011-0153-7
关键词: cardiovascular disease multislice computed tomography three-dimensional reconstruction diagnosis visualization
Zooming in and out of ferroptosis in human disease
《医学前沿(英文)》 2023年 第17卷 第2期 页码 173-206 doi: 10.1007/s11684-023-0992-z
关键词: ferroptosis human disease iron metabolism lipid peroxidation antioxidation
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《医学前沿(英文)》 2012年 第6卷 第4期 页码 366-375 doi: 10.1007/s11684-012-0214-6
Surveillance is critical for the prevention and control of infectious disease. China’s real-time web-based infectious disease reporting system is a distinguished achievement. However, many aspects of the current China Infectious Disease Surveillance System do not yet meet the demand for timely outbreak detection and identification of emerging infectious disease. PulseNet, the national molecular typing network for foodborne disease surveillance was first established by the Centers for Disease Control and Prevention of the United States in 1995 and has proven valuable in the early detection of outbreaks and tracing the pathogen source. Since 2001, the China CDC laboratory for bacterial pathogen analysis has been a member of the PulseNet International family; and has been adapting the idea and methodology of PulseNet to develop a model for a future national laboratory-based surveillance system for all bacterial infectious disease. We summarized the development progress for the PulseNet China system and discussed it as a model for the future of China’s national laboratory-based surveillance system.
关键词: infectious disease laboratory-based infectious disease surveillance pulse field gel electrophoresis multilocus sequencing typing PulseNet China
The epidemiology of norovirus gastroenteritis in China: disease burden and distribution of genotypes
Honglu Zhou, Songmei Wang, Lorenz von Seidlein, Xuanyi Wang
《医学前沿(英文)》 2020年 第14卷 第1期 页码 1-7 doi: 10.1007/s11684-019-0733-5
关键词: molecular epidemiology norovirus disease burden genotype China
Coronavirus disease 2019 (COVID-19): a clinical update
Min Zhou, Xinxin Zhang, Jieming Qu
《医学前沿(英文)》 2020年 第14卷 第2期 页码 126-135 doi: 10.1007/s11684-020-0767-8
关键词: coronavirus disease 2019 epidemiology pathology radiology clinical characteristics treatment
《医学前沿(英文)》 2023年 第17卷 第1期 页码 58-67 doi: 10.1007/s11684-022-0937-y
关键词: cardiac disease mortality aged population lung transplantation
标题 作者 时间 类型 操作
Type 2 diabetes is causally associated with depression: a Mendelian randomization analysis
Liping Xuan, Zhiyun Zhao, Xu Jia, Yanan Hou, Tiange Wang, Mian Li, Jieli Lu, Yu Xu, Yuhong Chen, Lu Qi, Weiqing Wang, Yufang Bi, Min Xu
期刊论文
Exploration of Strategies for Chronic Disease Prevention and Control and Relevant System Development
Long-de Wang
期刊论文
免疫球蛋白G N-糖基化与代谢特征之间的双向因果关联——一项孟德尔随机化研究
孟晓妮, 曹维杰, 刘迪, Isinta Elijah Maranga, 邢薇佳, 侯海峰, 徐希柱, 宋曼殳, 王友信
期刊论文
Multislice computed tomography angiography in the diagnosis of cardiovascular disease: 3D visualizations
Zhonghua Sun
期刊论文
PulseNet China, a model for future laboratory-based bacterial infectious disease surveillance in China
null
期刊论文
The epidemiology of norovirus gastroenteritis in China: disease burden and distribution of genotypes
Honglu Zhou, Songmei Wang, Lorenz von Seidlein, Xuanyi Wang
期刊论文