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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Noncoding rare variants in PANX3 are associated with chronic back pain
Nadezhda M Belonogova1, Anatoly V Kirichenko1,2, Maxim B Freidin3
1Laboratory of Recombination and Segregation Analysis, Institute of Cytology and Genetics, Novosibirsk, Russia.
Pain
|November 30, 2022
Summary
Genetics plays a role in chronic back pain. This study identified two genes, SOX5 and PANX3, influencing back pain, with PANX3 showing a novel association possibly linked to intervertebral disc health.
Area of Science:
- Genetics
- Genomics
- Pain Research
Background:
- Chronic back pain is a global health issue with significant disability.
- Genetics contributes substantially to chronic back pain heritability (estimated at 40%).
- Previous studies focused on common genetic variations, leaving the role of rare variants largely unexplored.
Purpose of the Study:
- To conduct the first gene-based association analysis for chronic back pain, specifically investigating rare genetic variants.
- To identify novel genes associated with chronic back pain using UK Biobank data.
Main Methods:
- Utilized UK Biobank imputed data, including rare variants with moderate imputation quality.
- Performed a gene-based association analysis to identify genes linked to chronic back pain.
- Replicated findings in an independent UK Biobank sample and validated with FinnGen Biobank dorsalgia data.
Main Results:
- Discovered two genes, SOX5 and PANX3, associated with chronic back pain.
- SOX5 is a known contributor, while PANX3 represents a novel finding.
- The association of PANX3 with chronic back pain is attributed to rare noncoding intronic polymorphisms.
- PANX3 is also associated with intervertebral disc disorders.
Conclusions:
- Identified SOX5 and the novel gene PANX3 as influencing chronic back pain.
- Rare variants in PANX3 are significantly associated with chronic back pain.
- PANX3's role in intervertebral disc disorders suggests a potential mechanism for its impact on back pain.
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