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Genome-wide meta-analysis of 158,000 individuals of European ancestry identifies three loci associated with chronic back pain

Journal article
Authors P. Suri
M. R. Palmer
Y. A. Tsepilov
M. B. Freidin
C. G. Boer
M. S. Yau
D. S. Evans
A. Gelemanovic
T. M. Bartz
Maria Nethander
L. Arbeeva
L. Karssen
T. Neogi
A. Campbel
Dan Mellström
Claes Ohlsson
L. M. Marshall
E. Orwoll
A. Uitterlinden
J. I. Rotter
G. Lauc
B. M. Psaty
M. K. Karlsson
N. E. Lane
G. P. Jarvik
O. Polasek
M. Hochberg
J. M. Jordan
J. B. J. Van Meurs
R. Jackson
C. M. Nielson
B. D. Mitchell
B. H. Smith
C. Hayward
N. L. Smith
Y. S. Aulchenko
F. M. K. Williams
Published in PLoS Genet
Volume 14
Issue 9
ISSN 1553-7404
Publication year 2018
Published at Core Facilities, Bioinformatics
Centre for Bone and Arthritis Research
Institute of Medicine, Department of Internal Medicine and Clinical Nutrition
Language en
Keywords ld score regression, body-mass index, genetic-variants, intervertebral, disc, knee osteoarthritis, cotwin control, risk-factors, heritability, netrin-1, traits, Genetics & Heredity
Subject categories Medical Genetics


Back pain is the #1 cause of years lived with disability worldwide, yet surprisingly little is known regarding the biology underlying this symptom. We conducted a genome-wide association study (GWAS) meta-analysis of chronic back pain (CBP). Adults of European ancestry were included from 15 cohorts in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium, and from the UK Biobank interim data release. CBP cases were defined as those reporting back pain present for >= 3-6 months; non-cases were included as comparisons ("controls"). Each cohort conducted genotyping using commercially available arrays followed by imputation. GWAS used logistic regression models with additive genetic effects, adjusting for age, sex, study-specific covariates, and population substructure. The threshold for genome-wide significance in the fixed-effect inverse-variance weighted meta-analysis was p<5x10(-8). Suggestive (p<5x10(-7)) and genome-wide significant (p<5x10(-8)) variants were carried forward for replication or further investigation in the remaining UK Biobank participants not included in the discovery sample. The discovery sample comprised 158,025 individuals, including 29,531 CBP cases. A genome-wide significant association was found for the intronic variant rs12310519 in SOX5 (OR 1.08, p = 7.2x10(-10)). This was subsequently replicated in 283,752 UK Biobank participants not included in the discovery sample, including 50,915 cases (OR 1.06, p= 5.3x10(-11)), and exceeded genome-wide significance in joint meta-analysis (OR 1.07, p= 4.5x10(-19)). We found suggestive associations at three other loci in the discovery sample, two of which exceeded genome-wide significance in joint meta-analysis: an intergenic variant, rs7833174, located between CCDC26 and GSDMC (OR 1.05, p = 4.4x10(-13)), and an intronic variant, rs4384683, in DCC (OR 0.97, p = 2.4x10(-19)). In this first reported meta-analysis of GWAS for CBP, we identified and replicated a genetic locus associated with CBP (SOX5). We also identified 2 other loci that reached genome-wide significance in a 2-stage joint meta-analysis (CCDC26/GSDMC and DCC).

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