A Genome-wide Association Study Identifies Novel Genetic Variants Associated with Neck or Shoulder Pain in the UK Biobank (N = 441,757)

Neck and shoulder pain are prevalent musculoskeletal disorders that significantly impact the quality of life for a substantial portion of the global population. Studies have shown that women are more susceptible than men. This study aims to discover genetic variants associated with neck or shoulder pain through a genome-wide association study (GWAS), using data from 441,757 participants in the UK Biobank. The primary GWAS revealed five significant genetic loci (including two novel) associated with neck or shoulder pain, with the most significant single nucleotide polymorphism (SNP) being rs9889282 (p = 2.63 x 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 x 10-9) near TCF4 and rs370565192 (p = 3.80 x 10-8) in DCAF5, respectively. The female-specific GWAS identified two significant loci including one near CA10 and one near LINC02770 on chromosome 1 with the top SNP being rs5779595 (p = 3.57 x 10-8). The male-specific GWAS identified one locus in SLC24A3 on chromosome 20 with the top SNP being rs16980973 (p = 6.52 x 10-9). The tissue expression analysis revealed a significant association between brain tissues and neck or shoulder pain. In summary, this study has identified novel genetic variants for neck or shoulder pain. Sex stratified GWAS also suggested that gender played a role in the occurrence of the phenotype.