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Genetics of Intervertebral Disc Degeneration.

David C Ou-YangChristopher J KleckCheryl L Ackert-Bicknell
Published in: Current osteoporosis reports (2023)
Use of large cohorts of patient data to conduct genome-wide association studies (GWAS) for intervertebral disc disease, and to lesser extent for aspects of this process, such as disc height, has resulted in a large increase in our understanding of the genetic etiology. Genetic correlation suggests that intervertebral disc disease is pleiotropic with risk factors for other diseases such as osteoporosis. The use of Mendelian Randomization is slowly establishing what are the causal relationships between intervertebral disc disease and factors previously correlated with this disease. The results from these human genetic studies highlight the complex nature of this disease and have the potential to lead to improved clinical management of intervertebral disc disease. Much additional work should now be focused on characterizing the causative relationship various co-morbid conditions have with intervertebral disc degeneration and on finding interventions to slow or halt this disease.
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