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A Whole Exome Study Identifies Novel Candidate Genes for Vertebral Bone Marrow Signal Changes (Modic Changes)
Minna Kraatari1,2,3, Sini Skarp1,2,4, Jaakko Niinimäki3,5
1Center for Life Course Health Research, Faculty of Medicine, University of Oulu, Oulu, Finland.
Spine
|December 21, 2016
Summary
Rare genetic factors linked to Modic changes (MCs) were identified in two Finnish families. Mutations in the HSPG2 and MAML1 genes may predispose individuals to this common cause of low back pain.
Area of Science:
- Genetics and molecular biology
- Orthopedics and musculoskeletal research
- Medical imaging and diagnostics
Background:
- Lumbar disc degeneration (LDD) is a significant contributor to low back pain (LBP).
- Modic changes (MCs), visualized as bone marrow signal changes on MRI, represent a distinct LDD phenotype strongly associated with LBP.
- Identifying genetic factors for MCs can elucidate disease mechanisms and inform targeted therapies for LBP.
Purpose of the Study:
- To identify rare genetic variants predisposing to Modic changes (MCs) in Finnish families.
- To investigate the genetic underpinnings of a specific phenotype of lumbar disc degeneration associated with low back pain.
Main Methods:
- A family-based genetic study involving two Finnish families with individuals exhibiting Modic changes (MCs).
- Whole exome sequencing was employed to detect genetic alleles cosegregating with MCs.
- Functional annotation and frequency evaluation of identified variants using population databases (1000Genomes, Sisu, ExAC).
Main Results:
- Two distinct genetic alleles cosegregated with MCs in the studied families.
- An insertion-deletion in the HSPG2 gene, causing a premature termination codon, was identified in Family I.
- A single nucleotide polymorphism (rs61753465) in the MAML1 gene was found in all affected individuals of Family II.
Conclusions:
- Two novel candidate genes, MAML1 and HSPG2, are associated with Modic changes (MCs).
- These genes play crucial roles in cartilage structure and maintenance, suggesting a link between cartilage integrity and MC development.
- These findings offer new insights into the genetic basis of lumbar spine degenerative phenotypes.
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