A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank.

Andrew Mcintosh,Archie Campbell,Blair H Smith,Brian W Chan,Cameron Harris,Caroline Hayward,Colin N A Palmer,Frances M K Williams,Harry L Hebert,Hua Zheng,Lesley A Colvin,Mark J Adams,Maxim B Freidin,Tim G Hales,Weihua Meng,Xianwei Zhang

doi:10.1093/hmg/ddaa058

Abstract

BackgroundCommon types of musculoskeletal conditions include pain in the neck and shoulder areas. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.MethodsA genome-wide association study was performed adjusting for age, sex, BMI and nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.ResultsWe identified three genetic loci that were associated with neck or shoulder pain in the UK Biobank samples. The most significant locus was in an intergenic region in chromosome 17, rs12453010, having P = 1.66 × 10−11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 × 10−10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 × 10−8 for rs62053992. In the replication stage, among four significant and independent genetic variants, rs2049604 in the FOXP2 gene and rs62053992 in the LINC01572 gene were weakly replicated in GS:SFHS (P = 0.0240 and P = 0.0202, respectively).ConclusionsWe have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort. Further evidence is needed to confirm their roles in neck or shoulder pain.

Highlights

Musculoskeletal pain in the neck and shoulder areas is a major health problem for adults of working age as well as for elderly populations [1]
We have identified three loci associated with neck or shoulder pain in the UK Biobank cohort, two of which were weakly supported in a replication cohort
This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association study (GWAS) approach in a cohort of 203 309 subjects from the UK Biobank cohort and to test significant results for replication in the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK

Summary

Introduction

Musculoskeletal pain in the neck and shoulder areas is a major health problem for adults of working age as well as for elderly populations [1]. The etiologies of neck and shoulder pain may be complicated since both regional lesions and systemic disorders outside the cervicobrachial area may cause pain at that location [3,4]. Many people have difficulty in describing and differentiating pain in these areas accurately For these reasons, neck or shoulder pain is often discussed as a single entity [6]. This study seeks to identify the genetic variants associated with neck or shoulder pain based on a genome-wide association approach using 203 309 subjects from the UK Biobank cohort and look for replication evidence from the Generation Scotland: Scottish Family Health Study (GS:SFHS) and TwinsUK.

Methods

Results

Conclusion