TY - JOUR
T1 - NELL-1 in Genome-Wide Association Studies across Human Diseases
AU - Cheng, Xu
AU - Shi, Jiayu
AU - Jia, Zhonglin
AU - Ha, Pin
AU - Soo, Chia
AU - Ting, Kang
AU - James, Aaron W.
AU - Shi, Bing
AU - Zhang, Xinli
N1 - Publisher Copyright:
© 2022 American Society for Investigative Pathology
PY - 2022/3
Y1 - 2022/3
N2 - Neural epidermal growth factor–like (EGFL)-like protein (NELL)-1 is a potent and key osteogenic factor in the development and regeneration of skeletal tissues. Intriguingly, accumulative data from genome-wide association studies (GWASs) have started unveiling potential broader roles of NELL-1 beyond its functions in bone and cartilage. With exploration of the genetic variants of the entire genome in large-scale disease cohorts, GWASs have been used for establishing the connection between specific single-nucleotide polymorphisms of NELL1, in addition to osteoporosis, metabolic diseases, inflammatory conditions, neuropsychiatric diseases, neurodegenerative disorders, and malignant tumors. This review summarizes the findings from GWASs on the manifestation, significance level, implications on function, and correlation of specific NELL1 single-nucleotide polymorphisms in various disorders in humans. By offering a unique and comprehensive correlation between genetic variants and plausible functions of NELL1 in GWASs, this review illustrates the wide range of potential effects of a single gene on the pathogenesis of multiple disorders in humans.
AB - Neural epidermal growth factor–like (EGFL)-like protein (NELL)-1 is a potent and key osteogenic factor in the development and regeneration of skeletal tissues. Intriguingly, accumulative data from genome-wide association studies (GWASs) have started unveiling potential broader roles of NELL-1 beyond its functions in bone and cartilage. With exploration of the genetic variants of the entire genome in large-scale disease cohorts, GWASs have been used for establishing the connection between specific single-nucleotide polymorphisms of NELL1, in addition to osteoporosis, metabolic diseases, inflammatory conditions, neuropsychiatric diseases, neurodegenerative disorders, and malignant tumors. This review summarizes the findings from GWASs on the manifestation, significance level, implications on function, and correlation of specific NELL1 single-nucleotide polymorphisms in various disorders in humans. By offering a unique and comprehensive correlation between genetic variants and plausible functions of NELL1 in GWASs, this review illustrates the wide range of potential effects of a single gene on the pathogenesis of multiple disorders in humans.
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U2 - 10.1016/j.ajpath.2021.11.006
DO - 10.1016/j.ajpath.2021.11.006
M3 - Review article
C2 - 34890556
AN - SCOPUS:85125287708
SN - 0002-9440
VL - 192
SP - 395
EP - 405
JO - American Journal of Pathology
JF - American Journal of Pathology
IS - 3
ER -