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Journal of Experimental Neurology

ISSN: 2692-2819

Research Article Open Access
Volume 3 | Issue 2 | DOI: https://doi.org/10.33696/Neurol.3.061

Discovery of New Candidate Genes for Anorexia Nervosa through Integration of eQTLs with Summary Statistics

Ting Wang1,#, Jiahao Qiao1,#, Haimiao Chen1,#, Ping Zeng1,2,3,4,5,*, Lihong Huang6,7,*
  • 7Clinical Research Unit, Institute of Clinical Science, Zhongshan Hospital of Fudan University, Shanghai, 200032, China
  • 6Department of Biostatistics, Zhongshan Hospital, Fudan University, Shanghai, 200032, China
  • 5Engineering Research Innovation Center of Biological Data Mining and Healthcare Transformation, Xuzhou Medical University, Xuzhou, Jiangsu, 221004, China
  • 3Key Laboratory of Human Genetics and Environmental Medicine, Xuzhou Medical University, Xuzhou, Jiangsu, 221004, China
  • 4Key Laboratory of Environment and Health, Xuzhou Medical University, Xuzhou, Jiangsu, 221004, China
  • 2Center for Medical Statistics and Data Analysis, Xuzhou Medical University, Xuzhou, Jiangsu, 221004, China
  • #Co-first authors
  • 1Department of Biostatistics, School of Public Health, Xuzhou Medical University, Xuzhou, Jiangsu, 221004, China
+ Affiliations - Affiliations

Corresponding Author

Ping Zeng
E-mail:zpstat@xzhmu.edu.cn
 
Lihong Huang
E-mail:huang.lihong@zs-hospital.sh.cn

Received Date: August 08, 2022

Accepted Date: September 01, 2022

Citation:

Wang T, Qiao J, Chen H, Zeng P, Huang L. Discovery of New Candidate Genes for Anorexia Nervosa through Integration of eQTLs with Summary Statistics. J Exp Neurol. 2022;3(2):39-48.


Copyright: © 2022 Wang T, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.

Abstract

Genome-wide association studies (GWAS) have identified multiple genetic loci associated with anorexia nervosa (AN); however, the genetic architecture of AN remains largely unknown and many causal genes have not yet been discovered. To prioritize genes associated with AN, we applied metaXcan to integrate summary statistics available from the largest PGC-AN GWAS (3,495 cases and 10,982 controls) with eQTLs (expression quantitative trait loci) of 13 GTEx brain tissues, and identified a total of 133 associations (tagged by 57 unique genes), including multiple potentially promising candidate genes such as SUOX. These identified genes were further validated using an external AN dataset from UK Biobank (770 cases and 135,177 controls) and nine of them were replicated. Moreover, it was found that 72.7% of the identified genes demonstrated pleiotropic effects on at least one of nine other psychiatric disorders. The function analysis revealed these genes were involved in multiple AN-relevant pathways such as synapse organization. Overall, our study identified three candidate genes associated with AN, and would advance our understanding towards the genetic foundation of AN.

Keywords

Anorexia nervosa, Expression quantitative trait loci, Gene expression, Genome-wide association study, Integrative analysis, Summary statistics

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