Research Unit of Health Sciences and Technology, Faculty of Medicine, University of Oulu, Oulu, Finland.
Medical Research Center Oulu, Oulu University Hospital and University of Oulu, Oulu, Finland.
Nat Commun. 2024 Nov 7;15(1):9424. doi: 10.1038/s41467-024-53467-z.
Given that lumbar disc herniation (LDH) is a prevalent spinal condition that causes significant individual suffering and societal costs, the genetic basis of LDH has received relatively little research. Our aim is to increase understanding of the genetic factors influencing LDH. We perform a genome-wide association analysis (GWAS) of LDH in the FinnGen project and in Estonian and UK biobanks, followed by a genome-wide meta-analysis to combine the results. In the meta-analysis, we identify 41 loci that have not been associated with LDH in prior studies on top of the 23 known risk loci. We detect LDH-associated loci in the vicinity of genes related to inflammation, disc-related structures, and synaptic transmission. Overall, our research contributes to a deeper understanding of the genetic factors behind LDH, potentially paving the way for the development of new therapeutics, prevention methods, and treatments for symptomatic LDH in the future.
鉴于腰椎间盘突出症（LDH）是一种常见的脊柱疾病，会给个人带来巨大的痛苦并造成巨大的社会成本，因此，LDH 的遗传基础相对较少受到研究。我们的目的是增加对影响 LDH 的遗传因素的理解。我们在 FinnGen 项目以及爱沙尼亚和英国生物库中对 LDH 进行了全基因组关联分析（GWAS），然后进行全基因组荟萃分析以合并结果。在荟萃分析中，除了已知的 23 个风险基因座外，我们还在先前针对 LDH 的研究中确定了 41 个与 LDH 无关的基因座。我们在与炎症、椎间盘相关结构和突触传递相关的基因附近检测到与 LDH 相关的基因座。总的来说，我们的研究有助于更深入地了解 LDH 背后的遗传因素，这可能为未来开发针对有症状的 LDH 的新疗法、预防方法和治疗方法铺平道路。
