A Comprehensive Review of Genetic Variations in Collagen-Encoding Genes and Their Implications in Intervertebral Disc Degeneration

Abstract

This comprehensive review examines the intricate relationship between genetic variations in collagen-encoding genes and their implications in intervertebral disc degeneration (IVDD). Intervertebral disc degeneration is a prevalent spinal condition characterized by structural and functional changes in intervertebral discs (IVDs), and understanding its genetic underpinnings is crucial for advancing diagnostic and therapeutic strategies. The review begins by exploring the background and importance of collagen in IVDs, emphasizing its role in providing structural integrity. It then delves into the significance of genetic variations within collagen-encoding genes, categorizing and discussing their potential impact on disc health. The methods employed in studying these variations, such as genome-wide association studies (GWASs) and next-generation sequencing (NGS), are also reviewed. The subsequent sections analyze existing literature to establish associations between genetic variations and IVDD, unraveling molecular mechanisms linking genetic factors to disc degeneration. The review concludes with a summary of key findings, implications for future research and clinical practice, and a reflection on the importance of understanding genetic variations in collagen-encoding genes to diagnose and treat IVDD. The insights gleaned from this review contribute to our understanding of IVDD and hold promise for the development of personalized interventions based on individual genetic profiles.

Keywords: collagen-encoding genes; genetic variations; genome-wide association studies; intervertebral disc degeneration; molecular mechanisms; personalized medicine.