Healthy lifestyle? or just the right genetic mutations

被引:1
作者
Butera, Alessio [1 ]
Amelio, Ivano [1 ]
机构
[1] Univ Konstanz, Chair Syst Toxicol, Constance, Germany
关键词
gene-environment interactions; protective mutations; genetic predisposition; metabolism; cancer; liver cirrosis; ROLES;
D O I
10.1080/15384101.2023.2206351
中图分类号
Q2 [细胞生物学];
学科分类号
071009 ; 090102 ;
摘要
The development of genomic technologies over the past decades has enabled identification of genetic variants responsible of disease; occasionally however, protective rare variants emerged. Verweij et al have recently reported genetic variants in CIDEB gene that are protective from liver injury. Here, we briefly summarise the recent findings on the impact of CIDEB variants on liver disease, while emphasizing how phenotype-genotype studies tailored for the identification of "protective" mutations might direct development of prevention and therapeutic strategies for common diseases.
引用
收藏
页码:1353 / 1356
页数:4
相关论文
共 23 条
[21]   Rare variant contribution to human disease in 281,104 UK Biobank exomes [J].
Wang, Quanli ;
Dhindsa, Ryan S. ;
Carss, Keren ;
Harper, Andrew R. ;
Nag, Abhishek ;
Tachmazidou, Ioanna ;
Vitsios, Dimitrios ;
Deevi, Sri V. V. ;
Mackay, Alex ;
Muthas, Daniel ;
Huhn, Michael ;
Monkley, Susan ;
Olsson, Henric ;
Wasilewski, Sebastian ;
Smith, Katherine R. ;
March, Ruth ;
Platt, Adam ;
Haefliger, Carolina ;
Petrovski, Slave .
NATURE, 2021, 597 (7877) :527-+
[22]   Ranking of non-coding pathogenic variants and putative essential regions of the human genome [J].
Wells, Alex ;
Heckerman, David ;
Torkamani, Ali ;
Yin, Li ;
Sebat, Jonathan ;
Ren, Bing ;
Telenti, Amalio ;
di Iulio, Julia .
NATURE COMMUNICATIONS, 2019, 10 (1)
[23]   Differential Roles of Cell Death-inducing DNA Fragmentation Factor-α-like Effector (CIDE) Proteins in Promoting Lipid Droplet Fusion and Growth in Subpopulations of Hepatocytes [J].
Xu, Wenyi ;
Wu, Lizhen ;
Yu, Miao ;
Chen, Feng-Jung ;
Arshad, Muhammad ;
Xia, Xiayu ;
Ren, Hao ;
Yu, Jinhai ;
Xu, Li ;
Xu, Dijin ;
Li, John Zhong ;
Li, Peng ;
Zhou, Linkang .
JOURNAL OF BIOLOGICAL CHEMISTRY, 2016, 291 (09) :4282-4293