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Genetic Study of complex diseases in the Post-GWAS Era

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Journal of Genetics and Genomics 2015年第3期42卷 87-98页

作者： Qingyang Huang College of Life Sciences Central China Normal University

Genome-wide association studies （GWASs） have identified thousands of genes and genetic variants （mainly SNPs） that contribute to complex diseases in humans. Functional characterization and mechanistic elucidation of these SNPs and genes action are the next major challenge. It has been well established that SNPs altering the amino acids of protein-coding genes can drastically impact protein function, and play an important role in molecular pathogenesis. Functions of regulatory SNPs can be complex and elusive, and involve gene expression regulation through the effect on RNA splicing, transcription factor binding, DNA metbylation and miRNA recruitment. In the present review, we summarize the recent progress in our understanding of functional consequences of GWAS-associated non-coding regulatory SNPs, and discuss the application of systems genetics and network biology in the interpretation of GWAS findings.

关键词： SNP Genome-wide association study complex diseases Systems genetics Network biology

Protein interaction networks:centrality,modularity,dynamics,and applications

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Frontiers of Computer Science 2021年第6期15卷 1-17页

作者： Xiangmao MENG Wenkai LI Xiaoqing PENG Yaohang LI Min LI School of Computer Science and Engineering Central South UniversityChangsha 410083China School of Life Science Central South UniversityChangsha 410083China Department of Computer Science Old Dominion UniversityNorfolk 23529-016USA

In the post-genomic era,proteomics has achieved significant theoretical and practical advances with the development of high-throughput *** the rapid accumulation of protein-protein interactions(PPIs)provides a foundation for constructing protein interaction networks(PINs),which can furnish a new perspective for understanding cellular organizations,processes,and functions at network *** this paper,we present a comprehensive survey on three main characteristics of PINs:centrality,modularity,and dynamics.1)Different centrality measures,which are used to calculate the importance of proteins,are summarized based on the structural characteristics of PINs or on the basis of its integrated biological information;2)Different modularity definitions and various clustering algorithms for predicting protein complexes or identifying functional modules are introduced;3)The dynamics of proteins,PPIs and sub-networks are discussed,***,the main applications of PINs in the complex diseases are reviewed,and the challenges and future research directions are also discussed.

关键词： protein interaction networks network centrality modularity dynamics complex diseases

The forty years of medical genetics in China

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Journal of Genetics and Genomics 2018年第11期45卷 569-582页

作者： Lei Cai Lan Alice Zheng Lin He Bio-X Institutes Key Laboratory for the Genetics of Developmental and Neuropsychiatric Disorders (Ministry of Education)Collaborative Innovation Center for Genetics and DevelopmentShanghai Jiao Tong UniversityShanghai 200240China Shanghai Center for Women and Children's Health Shanghai 200062China Stanley Center Broad InstituteCambridgeMA 02142USA

Medical genetics is the newest cutting-edge discipline that focuses on solving medical problems using genetics knowledge and methods. In China, medical genetics research activities initiated from a poor inner basis but a prosperous outer environment. During the 40 years of reform and opening-up policy,Chinese scientists contributed significantly in the field of medical genetics, garnering considerable attention worldwide. In this review, we highlight the significant findings and/or results discovered by Chinese scientists in monogenic diseases, complex diseases, cancer, genetic diagnosis, as well as gene manipulation and gene therapy. Due to these achievements, China is widely recognized to be at the forefront of medical genetics research and development. However, the significant progress and development that has been achieved could not have been accomplished without sufficient funding and a wellconstructed logistics network. The successful implementation of translational and precise medicine sourced from medical genetics will depend on an open ethics policy and intellectual property protection,along with strong support at the national industry level.

关键词： Medical genetics GWAS CRISPR Cancer Monogenic diseases complex diseases Genetic diagnosis Gene therapy

Role of renin-angiotensin system/angiotensin converting enzyme-2 mechanism and enhanced COVID-19 susceptibility in type 2 diabetes mellitus

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World Journal of Diabetes 2024年第4期15卷 606-622页

作者： Ashwin Kumar Shukla Komal Awasthi Kauser Usman Monisha Banerjee Molecular and Human Genetics Laboratory Department of ZoologyUniversity of LucknowLucknow 226007Uttar PradeshIndia Department of Medicine King Georges’Medical UniversityLucknow 226003Uttar PradeshIndia Institute of Advanced Molecular Genetics and Infectious Diseases(IAMGID)University of LucknowLucknow 226007Uttar PradeshIndia

Coronavirus disease 2019(COVID-19)is a disease that caused a global pandemic and is caused by infection of severe acute respiratory syndrome coronavirus 2 *** has affected over 768 million people worldwide,resulting in approx-imately 6900000 ***-risk groups,identified by the Centers for Disease Control and Prevention,include individuals with conditions like type 2 diabetes mellitus(T2DM),obesity,chronic lung disease,serious heart conditions,and chronic kidney *** indicates that those with T2DM face a hei-ghtened susceptibility to COVID-19 and increased mortality compared to non-diabetic *** the renin-angiotensin system(RAS),a vital regulator of blood pressure and pulmonary stability,reveals the significance of the angiotensin-converting enzyme(ACE)and ACE2 *** converts angiotensin-I to the vasoconstrictor angiotensin-II,while ACE2 counters this by converting angiotensin-II to angiotensin 1-7,a *** ACE2 exp-ression,common in diabetes,intensifies RAS activity,contributing to conditions like inflammation and *** ACE inhibitors and angiotensin receptor blockers can be therapeutically beneficial by increasing ACE2 levels,concerns arise regarding the potential elevation of ACE2 receptors on cell membranes,potentially facilitating COVID-19 *** review explored the role of the RAS/ACE2 mechanism in amplifying severe acute respiratory syndrome cor-onavirus 2 infection and associated complications in *** treatment strategies,including recombinant human ACE2 therapy,broad-spectrum antiviral drugs,and epigenetic signature detection,are discussed as promising avenues in the battle against this pandemic.

关键词： Angiotensin-converting enzyme 2 Angiotensin-converting enzyme inhibitors Angiotensin-II receptor blockers complex diseases COVID-19 Type 2 diabetes