一项全基因组关联研究在英国生物银行（样本量N = 430,193）中鉴定出与颈部或肩部疼痛相关的新型基因变异。

A genome-wide association study identifies novel genetic variants associated with neck or shoulder pain in the UK biobank (N = 430,193).

作者信息

Tao Yiwen, Pan Qi, Cai Tengda, Lu Zen Huat, Haque Mainul, Dottorini Tania, Colvin Lesley A, Smith Blair H, Meng Weihua

机构信息

Nottingham Ningbo China Beacons of Excellence Research and Innovation Institute, University of Nottingham Ningbo China, Ningbo, China.

PAPRSB Institute of Health Sciences, Universiti Brunei Darussalam, Bandar Seri Begawan, Brunei Darussalam.

出版信息

Pain Rep. 2025 Apr 18;10(3):e1267. doi: 10.1097/PR9.0000000000001267. eCollection 2025 Jun.

DOI:10.1097/PR9.0000000000001267

PMID:40291381

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12026381/

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.

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.

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.

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 ( = 2.63 × 10) near on chromosome 17. Two novel significant associations were detected on chromosomes 18 and 14, with the top SNPs being rs4608411 ( = 8.20 × 10) near and rs370565192 ( = 3.80 × 10) in , respectively. Our secondary GWAS identified a single novel genetic locus in among males and 2 genetic loci (including one novel near ) among females. In the replication stage, the locus was weakly supported by the FinnGen cohort. The tissue expression analysis revealed a significant association between brain tissues and neck or shoulder pain.

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.

摘要

引言

颈部和肩部疼痛是常见的肌肉骨骼疾病，对全球很大一部分人口的生活质量有显著影响。研究表明，女性比男性更容易患病。

目的

本研究旨在通过全基因组关联研究（GWAS），利用英国生物银行中430193名参与者的数据，发现与颈部或肩部疼痛相关的基因变异。

方法

进行了一项全基因组关联研究，并对年龄、性别、体重指数和8个群体主成分进行了校正。显著且独立的基因变异由芬兰基因库（FinnGen）进行重复验证。

结果

主要的GWAS揭示了5个与颈部或肩部疼痛相关的显著基因位点（包括2个新位点），最显著的单核苷酸多态性（SNP）是位于17号染色体上靠近的rs9889282（ = 2.63 × 10）。在18号和14号染色体上检测到两个新的显著关联，顶级SNP分别是靠近的rs4608411（ = 8.20 × 10）和中的rs370565192（ = 3.80 × 10）。我们的二次GWAS在男性中确定了一个新的基因位点，在女性中确定了2个基因位点（包括靠近的一个新位点）。在重复验证阶段，芬兰基因库队列对该位点的支持较弱。组织表达分析显示脑组织与颈部或肩部疼痛之间存在显著关联。