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

Research output: Contribution to journalArticle

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

Original languageEnglish
JournalHuman Molecular Genetics
Publication statusE-pub ahead of print - 3 Apr 2020

Bibliographical note

© The Author(s) 2020. Published by Oxford University Press.

King's Authors


BACKGROUND: Common 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.

METHODS: A genome-wide association study was performed adjusting for age, sex, BMI and 9 population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication.

RESULTS: We identified 3 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 x 10-11. The second most significant locus was located in the FOXP2 gene in chromosome 7 with P = 2.38 x 10-10 for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P = 4.50 x 10-8 for rs62053992. In the replication stage, among 4 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).

CONCLUSIONS: We have identified 3 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.

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