Genetic background of degenerative disc disease in the lumbar spine

• Main Author: Yoshiharu Kawaguchi
• Format: Article
• Language: English
• Published: The Japanese Society for Spine Surgery and Related Research 2018-04-01
• Series: Spine Surgery and Related Research
• Subjects: lumbar spine; lumbar disc diseases; lumbar disc degeneration; lumbar disc herniation; discogenic low back pain; genetics; gene; polymorphism; SNP
• Online Access: https://www.jstage.jst.go.jp/article/ssrr/2/2/2_2017-0007/_pdf/-char/en

This is a review paper on the topic of genetic background of degenerative disc diseases in the lumbar spine. Lumbar disc diseases (LDDs), such as lumbar disc degeneration and lumbar disc herniation, are the main cause of low back pain. There are a lot of studies that tried to identify the causes of LDDs. The causes have been categorized into environmental factors and genetic factors. Recent studies revealed that LDDs are mainly caused by genetic factors. Numerous studies have been carried out using the genetic approach for LDDs. The history of these studies is divided into three periods: (1) era of epidemiological research using familial background and twins, (2) era of genomic research using DNA polymorphisms to identify susceptible genes for LDDs, and (3) era of functional research to determine how the genes cause LDDs. This review article was undertaken to present the history of genetic approach to LDDs and to discuss the current issues and future perspectives.