Division of Population Health and Genomics, Medical Research Institute, Ninewells Hospital and School of Medicine, University of Dundee, Dundee, DD2 4BF, UK.
Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, London, SE1 7EH, UK.
Hum Mol Genet. 2020 May 28;29(8):1396-1404. doi: 10.1093/hmg/ddaa058.
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.
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.
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).
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.
常见的肌肉骨骼疾病包括颈部和肩部疼痛。本研究旨在通过对来自英国生物库队列的 203309 名受试者进行全基因组关联研究，识别与颈部或肩部疼痛相关的遗传变异，并寻找来自苏格兰家族健康研究（Generation Scotland: Scottish Family Health Study，GS:SFHS）和 TwinsUK 的复制证据。
对英国生物库样本进行全基因组关联研究，调整年龄、性别、BMI 和 9 个人群主要成分。然后将显著且独立的遗传变异发送至 GS:SFHS 和 TwinsUK 进行复制。
我们在英国生物库样本中发现了三个与颈部或肩部疼痛相关的遗传位点。最显著的位点位于 17 号染色体的一个基因间区域，rs12453010，其 P 值为 1.66×10-11。第二个最显著的位点位于 7 号染色体的 FOXP2 基因中，rs34291892 的 P 值为 2.38×10-10。第三个位点位于 16 号染色体的 LINC01572 基因中，rs62053992 的 P 值为 4.50×10-8。在复制阶段，在四个显著且独立的遗传变异中，FOXP2 基因中的 rs2049604 和 LINC01572 基因中的 rs62053992 在 GS:SFHS 中得到了微弱的复制（P 值分别为 0.0240 和 0.0202）。
我们在英国生物库队列中发现了三个与颈部或肩部疼痛相关的位点，其中两个在复制队列中得到了微弱的支持。需要进一步的证据来证实它们在颈部或肩部疼痛中的作用。
