NELL-1 in Genome-Wide Association Studies across Human Diseases

Xu Cheng, Jiayu Shi, Zhonglin Jia, Pin Ha, Chia Soo, Kang Ting, Aaron W. James, Bing Shi, Xinli Zhang

Research output: Contribution to journalReview articlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)395-405
Number of pages11
JournalAmerican Journal of Pathology
Issue number3
StatePublished - Mar 2022

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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