Genome-wide association studies (GWAS) for orthopedic diseases: a systematic review

Abstract

Background and Objective: The objective of this review is to examine genome-wide association studies (GWAS) and whether they have helped treat orthopedic diseases in general and in the Middle East in particular. Methods: Between 2005 and May 2022, we searched MEDLINE, Scopus, Web of Science, EMBASE, Cochrane Central Register of Controlled Trials and Cochrane Database of Systematic Reviews and the Science Citation Index. Our criteria for manuscript analysis included articles involving patients with the presence or absence of the gene and single nucleotide polymorphism (SNP) that were published in the English language. The exclusion criteria included review articles and correspondence. We reviewed all of the articles manually for risk of bias and found no discrepancies in the papers selected. Results: There were 53,652 GWAS articles that reported on the Human Genome Project, out of which 439 studies reported on orthopedics. In total, 38 studies with data from 1,489,834 patients was analyzed. Conclusions: We identified many novel loci that can cause disease processes. We expected these studies to help in predicting diseases and developing new diagnostic procedures, preventive strategies, and better clinical care; however, this has not happened yet. It appears that we must investigate further before translating this knowledge in patient care.