NDLI: Genome- and Transcriptome-Wide Association Studies Identify Susceptibility Genes and Pathways for Periodontitis.

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Genome- and Transcriptome-Wide Association Studies Identify Susceptibility Genes and Pathways for Periodontitis.

Content Provider	Europe PMC
Author	Zhu, Guirong Cui, Xing Fan, Liwen Pan, Yongchu Wang, Lin
Editor	Raudsepp, Terje
Copyright Year	2022
Abstract	Several genes associated with periodontitis have been identified through genome-wide association studies (GWAS); however, known genes only explain a minority of the estimated heritability. We aimed to explore more susceptibility genes and the underlying mechanisms of periodontitis. Firstly, a genome-wide meta-analysis of 38,532 patients and 316,185 healthy controls was performed. Then, cross- and single-tissue transcriptome-wide association studies (TWAS) were conducted based on GWAS summary statistics and the Genotype-Tissue Expression (GTEx) project. Risk genes were evaluated to determine if they were differentially expressed in periodontitis sites compared with unaffected sites using public datasets. Finally, gene co-expression network analysis was conducted to identify the functional biology of the susceptible genes. A total of eight single nucleotide polymorphisms (SNPs) within the introns of lncRNA LINC02141 approached genome-wide significance after meta-analysis. EZH1 was identified as a novel susceptibility gene for periodontitis by TWAS and was significantly upregulated in periodontitis-affected gingival tissues. EZH1 co-expression genes were greatly enriched in the cell-substrate junction, focal adhesion and other important pathways. Our findings may offer a fundamental clue for comprehending the genetic mechanisms of periodontitis.
Journal	Cells
Volume Number	12
PubMed Central reference number	PMC9818314
Issue Number	1
PubMed reference number	36611863
e-ISSN	20734409
DOI	10.3390/cells12010070
Language	English
Publisher	MDPI
Publisher Date	2022-12-23
Access Restriction	Open
Rights License	Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). © 2022 by the authors.
Subject Keyword	genome-wide association study (GWAS) transcriptome-wide association study (TWAS) periodontitis
Content Type	Text
Resource Type	Article
Subject	Biochemistry, Genetics and Molecular Biology

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