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.

中文翻译：

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一项全基因组关联研究在英国生物库中鉴定出与颈部或肩部疼痛相关的新遗传变异（N = 441,757）

颈部和肩部疼痛是常见的肌肉骨骼疾病，严重影响全球大部分人口的生活质量。研究表明，女性比男性更容易受到影响。本研究旨在通过全基因组关联研究 (GWAS)，使用英国生物银行 441,757 名参与者的数据，发现与颈部或肩部疼痛相关的遗传变异。主要 GWAS 揭示了与颈部或肩部疼痛相关的 5 个显着遗传位点（包括两个新的），其中最显着的单核苷酸多态性 (SNP) 是 17 号染色体上CA10附近的 rs9889282 ( p = 2.63 x 10 ^-12 )。两个新的显着基因座在 18 号和 14 号染色体上检测到关联，其中最高的 SNP 分别是靠近TCF4 的rs4608411 ( p = 8.20 x 10 ^{-9 ) 和}DCAF5中的rs370565192 ( p = 3.80 x 10-8) 。女性特异性 GWAS 鉴定出两个重要位点，包括1 号染色体上CA10附近的一个位点和LINC02770附近的一个位点，其中顶部 SNP 为 rs5779595 ( p = 3.57 x 10 ^-8 )。男性特异性 GWAS在 20 号染色体上的SLC24A3中鉴定出一个位点，其顶部 SNP 为 rs16980973 ( p = 6.52 x 10 ^-9 )。组织表达分析揭示了脑组织与颈部或肩部疼痛之间的显着关联。总之，这项研究发现了颈部或肩部疼痛的新基因变异。性别分层的 GWAS 还表明，性别在表型的发生中发挥了作用。