| Title: | A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193) |
| Journal: | PAIN Reports |
| Published: | 18 Apr 2025 |
| Pubmed: | https://pubmed.ncbi.nlm.nih.gov/40291381/ |
| DOI: | https://doi.org/10.1097/pr9.0000000000001267 |
Publication 15478
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Abstract
Introduction: Neck and shoulder pain are prevalent musculoskeletal disorders that significantly affect the quality of life for a substantial portion of the global population. Studies have shown that women are more susceptible than men.</p>
Objective: This study aims to discover genetic variants associated with neck or shoulder pain through a genome-wide association study (GWAS), using data from 430,193 participants in the UK Biobank.</p>
Methods: A genome-wide association study was performed adjusting for age, sex, BMI, and 8 population principal components. Significant and independent genetic variants were replicated by FinnGen.</p>
Results: The primary GWAS revealed 5 significant genetic loci (including 2 novel) associated with neck or shoulder pain, with the most significant single nucleotide polymorphism (SNP) being rs9889282 (P = 2.63 × 10-12) near CA10 on chromosome 17. Two novel significant associations were detected on chromosomes 18 and 14, with the top SNPs being rs4608411 (P = 8.20 × 10-9) near TCF4 and rs370565192 (P = 3.80 × 10-8) in DCAF5, respectively. Our secondary GWAS identified a single novel genetic locus in SLC24A3 among males and 2 genetic loci (including one novel near LINC02770) among females. In the replication stage, the SLC39A8 locus was weakly supported by the FinnGen cohort. The tissue expression analysis revealed a significant association between brain tissues and neck or shoulder pain.</p>
Conclusion: In summary, this study has identified novel genetic variants for neck or shoulder pain. Sex-stratified GWAS also suggested that sex played a role in the occurrence of the phenotype.</p>
9 Authors
- Yiwen Tao
- Qi Pan
- Tengda Cai
- Zen Huat Lu
- Mainul Haque
- Tania Dottorini
- Lesley A. Colvin
- Blair H. Smith
- Weihua Meng
1 Application
| Application ID | Title |
|---|---|
| 89386 | To explore the genetic mechanisms of multiple pain phenotypes based on the UK Biobank cohort |
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