Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.

Anna D Grabowska,Luís Nacul,Nuno Sepúlveda,Eliana M Lacerda

doi:10.3389/fped.2020.00293

Abstract

Review of the Quality Control Checks Performed by Current Genome-Wide and Targeted-Genome Association Studies on Myalgic Encephalomyelitis/Chronic Fatigue Syndrome.

Highlights

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating disease characterized by persistent fatigue and post-exertion malaise, accompanied by other symptoms [1, 2]
With the aim to identify putative genetic factors that could explain the pathophysiological mechanisms of ME/CFS, four genome-wide association studies (GWAS) and two targeted-genome association studies (TGAS) were conducted in the past decade [5,6,7,8,9,10]
The present opinion paper first revisits the recommended quality control (QC) checks for GWAS and TGAS, and summarizes which ones were performed by those studies on ME/CFS

Summary

Introduction

Myalgic Encephalomyelitis/Chronic Fatigue Syndrome (ME/CFS) is a debilitating disease characterized by persistent fatigue and post-exertion malaise, accompanied by other symptoms [1, 2]. The present opinion paper first revisits the recommended quality control (QC) checks for GWAS and TGAS, and summarizes which ones were performed by those studies on ME/CFS. Current GWAS or TGAS of ME/CFS are based on data of the so-called single nucleotide polymorphisms (SNPs) located in specific positions of the human genome.

Results

Conclusion