NELL-1 in Genome-Wide Association Studies across Human Disease.
NELL-1 in Genome-Wide Association Studies across Human Disease.
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DOI：
10.1016/j.ajpath.2021.11.006
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发表时间：
2021
期刊：
影响因子：
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通讯作者：
Xinli Zhang
中科院分区：
文献类型：
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作者：
Xu Cheng;Jiayu Shi;Zhonglin Jia;Pin Ha;Chia Soo;Kang Ting;Aaron W. James;Bing Shi;Xinli Zhang
NELL-1, Neural EGF-like ligand-1, has been proven as a potent and key osteogenic factor in the development and regeneration of skeletal tissues. Intriguingly, the accumulative Genome-Wide Association Studies (GWAS) data started unveiling NELL-1's potential broader roles beyond its function in bone and cartilage. By exploring the genetic variants of the entire genome in a large population of disease cohorts, GWAS has established the connection, in addition to osteoporosis, between the specific single nucleotide polymorphisms (SNPs) of the NELL-1 gene and different metabolic diseases, inflammatory conditions, neuropsychiatric diseases, neurodegenerative disorders, and malignant tumors. This review aims to summarize the manifestation, significance level, functional implication, and correlation of the specific NELL-1 SNPs within various human disorders by GWAS. By offering a unique and comprehensive correlation of genetic variants and plausible functions of NELL-1 in GWAS, this review illustrates the wide range of potential impacts of a single gene on the pathogenesis of multiple human disorders.
