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已发表论文
阻塞性睡眠呼吸暂停与颈部疼痛的共享遗传结构：一项大规模全基因组关联研究
Authors Yang F , Zhu D, Yu R, Zhang Z, He J
Received 30 April 2025
Accepted for publication 5 November 2025
Published 1 December 2025 Volume 2025:18 Pages 6423—6436
DOI https://doi.org/10.2147/JPR.S534380
Checked for plagiarism Yes
Review by Single anonymous peer review
Peer reviewer comments 2
Editor who approved publication: Professor King Hei Stanley Lam
Fangjie Yang,1,* Dan Zhu,2,* Renyu Yu,3 Zhiyi Zhang,4 Jian He2,5
1Fujian Vocational College of Bioengineering, Fuzhou, Fujian Province, 350007,People’s Republic of China; 2Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian Province, 350122, People’s Republic of China; 3The Affiliated People’s Hospital of Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian Province, 350004, People’s Republic of China; 4Department of Massage, Quanzhou Orthopedic-Traumatological Hospital, Quanzhou, Fujian Province, 362000, People’s Republic of China; 5Zhangzhou Health Vocational College, Zhangzhou, Fujian Province, 363000, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Jian He, Email hejian@fjtcm.edu.cn
Background: This study aims to explore the role of genetic factors in the co-occurrence of neck pain and obstructive sleep apnea (OSA), thereby providing a deeper understanding of their intrinsic relationship.
Methods: We analyzed GWAS data for OSA from the FinnGen consortium (38,998 cases and 336,659 controls), and neck pain from the UK Biobank (106,521 cases and 355,336 controls), all of European ancestry. Genetic correlation between neck pain and OSA using the Linkage Disequilibrium Score Regression (LDSC) method and High-definition Likelihood (HDL) method. Local correlation was examined across 2,795 loci with Local Analysis of Variant Association (LAVA). Mendelian randomization (MR) was conducted to infer causality. Cross-Phenotype Association (CPASSOC) identified pleiotropic SNPs, which were annotated with FUMA and validated by MAGMA. Transcriptome-wide association study (TWAS) and tissue enrichment analyses were further applied to explore biological mechanisms.
Results: MR analysis indicated that NP increases the risk of OSA. CPASSOC identified 150 pleiotropic SNPs, with 40 loci annotated by FUMA, yielding 85 pleiotropic genes consistent with MAGMA. TWAS highlighted seven genes with significant pleiotropic effects on both NP and OSA. Tissue enrichment revealed that pleiotropic gene expression was predominantly localized in brain tissues, particularly the cerebral cortex (P=2.17E-6). These genes suggested involvement of neurodevelopmental and metabolic pathways in neck pain-OSA comorbidity. In MR,we found that individuals with neck pain had an increased risk of developing OSA.
Conclusion: Our findings underscore the pivotal role of genetic factors in neck pain–OSA comorbidity and provide theoretical support for considering pain management as part of clinical strategies for OSA.
Keywords: GWAS, neck pain, OSA, genetic correlation
1Fujian Vocational College of Bioengineering, Fuzhou, Fujian Province, 350007,People’s Republic of China; 2Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian Province, 350122, People’s Republic of China; 3The Affiliated People’s Hospital of Fujian University of Traditional Chinese Medicine, Fuzhou, Fujian Province, 350004, People’s Republic of China; 4Department of Massage, Quanzhou Orthopedic-Traumatological Hospital, Quanzhou, Fujian Province, 362000, People’s Republic of China; 5Zhangzhou Health Vocational College, Zhangzhou, Fujian Province, 363000, People’s Republic of China
*These authors contributed equally to this work
Correspondence: Jian He, Email hejian@fjtcm.edu.cn
Background: This study aims to explore the role of genetic factors in the co-occurrence of neck pain and obstructive sleep apnea (OSA), thereby providing a deeper understanding of their intrinsic relationship.
Methods: We analyzed GWAS data for OSA from the FinnGen consortium (38,998 cases and 336,659 controls), and neck pain from the UK Biobank (106,521 cases and 355,336 controls), all of European ancestry. Genetic correlation between neck pain and OSA using the Linkage Disequilibrium Score Regression (LDSC) method and High-definition Likelihood (HDL) method. Local correlation was examined across 2,795 loci with Local Analysis of Variant Association (LAVA). Mendelian randomization (MR) was conducted to infer causality. Cross-Phenotype Association (CPASSOC) identified pleiotropic SNPs, which were annotated with FUMA and validated by MAGMA. Transcriptome-wide association study (TWAS) and tissue enrichment analyses were further applied to explore biological mechanisms.
Results: MR analysis indicated that NP increases the risk of OSA. CPASSOC identified 150 pleiotropic SNPs, with 40 loci annotated by FUMA, yielding 85 pleiotropic genes consistent with MAGMA. TWAS highlighted seven genes with significant pleiotropic effects on both NP and OSA. Tissue enrichment revealed that pleiotropic gene expression was predominantly localized in brain tissues, particularly the cerebral cortex (P=2.17E-6). These genes suggested involvement of neurodevelopmental and metabolic pathways in neck pain-OSA comorbidity. In MR,we found that individuals with neck pain had an increased risk of developing OSA.
Conclusion: Our findings underscore the pivotal role of genetic factors in neck pain–OSA comorbidity and provide theoretical support for considering pain management as part of clinical strategies for OSA.
Keywords: GWAS, neck pain, OSA, genetic correlation