[1]李冠奇 汤嘉俊 刘杰灵 王方敏 丁质钰 彭毅 王卫国 苗惊雷 陈世杰 李劲松.通过蛋白质性状位点分析揭示弥漫性特发性骨肥厚的潜在治疗靶点[J].中华老年骨科与康复电子杂志,2025,(06):345-350.[doi:10.3877/cma.j.issn.2096-0263.2025.06.004]
　Li Guanqi,Tang Jiajun,Liu Jieling,et al.Identification of potential therapeutic targets for diffuse idiopathic skeletal hyperostosis via protein quantitative trait locus analysis[J].Chin J Geriatr Orthop Rehabil(Electronic Edition),2025,(06):345-350.[doi:10.3877/cma.j.issn.2096-0263.2025.06.004]
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通过蛋白质性状位点分析揭示弥漫性特发性骨肥厚的潜在治疗靶点()
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中华老年骨科与康复电子杂志[ISSN:1674-3911/CN:11-9292/R]

卷:
期数:
2025年06期
页码:
345-350
栏目:
基础研究
出版日期:
2025-12-05

文章信息/Info

Title:
Identification of potential therapeutic targets for diffuse idiopathic skeletal hyperostosis via protein quantitative trait locus analysis
作者:
李冠奇 汤嘉俊 刘杰灵 王方敏 丁质钰 彭毅 王卫国 苗惊雷 陈世杰 李劲松
410013 长沙，中南大学湘雅三医院脊柱外科
Author(s):
Li Guanqi;  Tang Jiajun;  Liu Jieling;  Wang Fangmin;  Ding Zhiyu;  Peng Yi;  Wang Weiguo;  Miao Jinglei;  Chen Shijie;  Li Jinsong.
Department of?Spinal Surgery, Third?Xiangya?Hospital of Central South University, Changsha 410013, China
关键词:
弥漫性特发性骨肥厚;  生物信息学分析;  孟德尔随机化
Keywords:
Diffuse idiopathic skeletal hyperostosis;  Bioinformatics analysis;  Mendelian randomization
DOI:
10.3877/cma.j.issn.2096-0263.2025.06.004
文献标志码:
A
摘要:
目的 蛋白质组是疾病治疗的主要来源靶点，本研究进行了全蛋白质组的孟德尔随机化分析，以鉴定候选蛋白质标记物和弥漫性特发性骨肥厚的治疗靶点。方法 蛋白质定量性状基因位点（PQTL）源自七个关于血浆蛋白质组的全基因组关联研究（GWASS），并提取了4 853个循环蛋白标记的摘要级别数据。与弥漫性特发性骨肥厚的遗传关联是从UK BioBank（9 276病例和477 069个对照组）中获得的。进行全蛋白质组孟德尔随机化分析以及Steiger滤波分析，以验证候选蛋白的因果作用。结果 遗传预测的两种蛋白CHAD和TMEM190与弥漫性特发性骨肥厚的风险有关。结论 这项研究确定了两种与弥漫性特发性骨肥厚风险相关的蛋白质生物标志物，并为病因的发现和疾病治疗靶点提供了新的见解，以开发筛查弥漫性特发性骨肥厚的生物标志物和治疗药物。
Abstract:
Objective The proteome represents a key source of therapeutic targets for complex diseases. In this study, we performed a proteome-wide Mendelian randomization (MR) analysis to identify potential protein biomarkers and therapeutic targets for diffuse idiopathic skeletal hyperostosis (DISH). Methods Protein quantitative trait loci (pQTL) data were obtained from seven genome-wide association studies (GWASs) on plasma proteomics, encompassing 4,853 circulating proteins. Summary-level genetic associations with DISH were derived from the UK Biobank (9,276 cases and 477,069 controls). Proteome-wide MR and Steiger filtering analyses were conducted to evaluate causal relationships between plasma proteins and DISH risk. Results Genetically predicted circulating levels of two proteins, CHAD and TMEM190, were found to be significantly associated with the risk of DISH. Conclusions This study identifies two plasma proteins associated with DISH susceptibility and provides novel insights into disease etiology and therapeutic targeting. These findings may contribute to the development of biomarkers and potential drugs for early screening and treatment of DISH.

备注/Memo

备注/Memo:
基金项目：国家自然科学基金面上项目（82273497）
更新日期/Last Update: 2026-05-18