单位：[1]Division of Population Health and Genomics, Medical Research Institute, Ninewells Hospital and School of Medicine, University of Dundee, Dundee, DD2 4BF, UK[2]Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King’s College London, London, SE1 7EH, UK[3]Division of Psychiatry, Edinburgh Medical School, University of Edinburgh, Edinburgh, EH10 5HF, UK[4]Centre for Genomic and Experimental Medicine, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK[5]Medical Research Council Human Genetics Unit, Institute of Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Edinburgh, EH4 2XU, UK[6]Department of Anaesthesiology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China麻醉科[7]Institute for Academic Anaesthesia, Division of Systems Medicine, School of Medicine, Ninewells Hospital, University of Dundee, Dundee, UK麻醉科
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=1.66x10(-11). The second most significant locus was located in the FOXP2 gene in chromosome 7 with P=2.38x10(-10) for rs34291892. The third locus was located in the LINC01572 gene in chromosome 16 with P=4.50x10(-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.
基金：
Wellcome TrustWellcome TrustEuropean Commission [104036/Z/14/Z]; GCRF academic exchange visits to China - University of Dundee; Chief Scientist Office of the Scottish Government Health Directorates [CZD/16/6]; Scottish Funding Council [HR03006]; Wellcome TrustWellcome TrustEuropean Commission; Medical Research CouncilUK Research & Innovation (UKRI)Medical Research Council UK (MRC)European Commission; European UnionEuropean Commission; Chronic Disease Research Foundation (CDRF); Zoe Global Ltd; National Institute for Health Research (NIHR)National Institute for Health Research (NIHR)
第一作者单位：[1]Division of Population Health and Genomics, Medical Research Institute, Ninewells Hospital and School of Medicine, University of Dundee, Dundee, DD2 4BF, UK[*1]Division of Population Health and Genomics, School of Medicine, University of Dundee, Dundee, DD2 4BF, UK
通讯作者：
通讯机构：[1]Division of Population Health and Genomics, Medical Research Institute, Ninewells Hospital and School of Medicine, University of Dundee, Dundee, DD2 4BF, UK[*1]Division of Population Health and Genomics, School of Medicine, University of Dundee, Dundee, DD2 4BF, UK
推荐引用方式(GB/T 7714)：
Meng Weihua,Chan Brian W.,Harris Cameron,et al.A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank[J].HUMAN MOLECULAR GENETICS.2020,29(8):1396-1404.doi:10.1093/hmg/ddaa058.
APA：
Meng, Weihua,Chan, Brian W.,Harris, Cameron,Freidin, Maxim B.,Hebert, Harry L....&Smith, Blair H..(2020).A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank.HUMAN MOLECULAR GENETICS,29,(8)
MLA：
Meng, Weihua,et al."A genome-wide association study finds genetic variants associated with neck or shoulder pain in UK Biobank".HUMAN MOLECULAR GENETICS 29..8(2020):1396-1404
