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

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

doi:10.1093/hmg/ddaa058

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

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

Research output: Journal Publication › Article › peer-review

21 Citations (Scopus)

Abstract

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 nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication. Results: We 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). Conclusions: 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. Further evidence is needed to confirm their roles in neck or shoulder pain.

Original language	English
Pages (from-to)	1396-1404
Number of pages	9
Journal	Human Molecular Genetics
Volume	29
Issue number	8
DOIs	https://doi.org/10.1093/hmg/ddaa058
Publication status	Published - 28 May 2020
Externally published	Yes

ASJC Scopus subject areas

Molecular Biology
Genetics
Genetics(clinical)

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1093/hmg/ddaa058

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Meng, W., Chan, B. W., Harris, C., Freidin, M. B., Hebert, H. L., Adams, M. J., Campbell, A., Hayward, C., Zheng, H., Zhang, X., Colvin, L. A., Hales, T. G., Palmer, C. N. A., Williams, F. M. K., McIntosh, A., & Smith, B. H. (2020). A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank. Human Molecular Genetics, 29(8), 1396-1404. https://doi.org/10.1093/hmg/ddaa058

@article{cfd6f65fbe694f73ab7b0f877d684474,

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

abstract = "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 nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication. Results: We 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). Conclusions: 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. Further evidence is needed to confirm their roles in neck or shoulder pain.",

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

note = "Publisher Copyright: {\textcopyright} 2020 The Author(s). Published by Oxford University Press.",

year = "2020",

month = may,

day = "28",

doi = "10.1093/hmg/ddaa058",

language = "English",

volume = "29",

pages = "1396--1404",

journal = "Human Molecular Genetics",

issn = "0964-6906",

publisher = "Oxford University Press",

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Meng, W, Chan, BW, Harris, C, Freidin, MB, Hebert, HL, Adams, MJ, Campbell, A, Hayward, C, Zheng, H, Zhang, X, Colvin, LA, Hales, TG, Palmer, CNA, Williams, FMK, McIntosh, A & Smith, BH 2020, 'A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank', Human Molecular Genetics, vol. 29, no. 8, pp. 1396-1404. https://doi.org/10.1093/hmg/ddaa058

TY - JOUR

T1 - A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank

AU - Meng, Weihua

AU - Chan, Brian W.

AU - Harris, Cameron

AU - Freidin, Maxim B.

AU - Hebert, Harry L.

AU - Adams, Mark J.

AU - Campbell, Archie

AU - Hayward, Caroline

AU - Zheng, Hua

AU - Zhang, Xianwei

AU - Colvin, Lesley A.

AU - Hales, Tim G.

AU - Palmer, Colin N.A.

AU - Williams, Frances M.K.

AU - McIntosh, Andrew

AU - Smith, Blair H.

PY - 2020/5/28

Y1 - 2020/5/28

N2 - 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 nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication. Results: We 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). Conclusions: 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. Further evidence is needed to confirm their roles in neck or shoulder pain.

AB - 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 nine population principal components. Significant and independent genetic variants were then sent to GS:SFHS and TwinsUK for replication. Results: We 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). Conclusions: 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. Further evidence is needed to confirm their roles in neck or shoulder pain.

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U2 - 10.1093/hmg/ddaa058

DO - 10.1093/hmg/ddaa058

M3 - Article

C2 - 32246137

AN - SCOPUS:85085586152

SN - 0964-6906

VL - 29

SP - 1396

EP - 1404

JO - Human Molecular Genetics

JF - Human Molecular Genetics

IS - 8

ER -

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

Abstract

ASJC Scopus subject areas

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