Decomposing the genetic background of chronic back pain.

IF 3.1 2区生物学 Q3 BIOCHEMISTRY & MOLECULAR BIOLOGY

Human molecular genetics Pub Date : 2025-04-06 DOI:10.1093/hmg/ddae195

Elizaveta E Elgaeva, Irina V Zorkoltseva, Arina V Nostaeva, Dmitrii A Verzun, Evgeny S Tiys, Anna N Timoshchuk, Anatoliy V Kirichenko, Gulnara R Svishcheva, Maxim B Freidin, Frances M K Williams, Pradeep Suri, Yurii S Aulchenko, Tatiana I Axenovich, Yakov A Tsepilov

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Abstract

Chronic back pain (CBP) is a disabling condition with a lifetime prevalence of 40% and a substantial socioeconomic burden. Because of the high heterogeneity of CBP, subphenotyping may help to improve prediction and support personalized treatment of CBP. To investigate CBP subphenotypes, we decomposed its genetic background into a shared one common to other chronic pain conditions (back, neck, hip, knee, stomach, and head pain) and unshared genetic background specific to CBP. We identified and replicated 18 genes with shared impact across different chronic pain conditions and two genes that were specific for CBP. Among people with CBP, we demonstrated that polygenic risk scores accounting for the shared and unshared genetic backgrounds of CBP may underpin different CBP subphenotypes. These subphenotypes are characterized by varying genetic predisposition to diverse medical conditions and interventions such as diabetes mellitus, myocardial infarction, diagnostic endoscopic procedures, and surgery involving muscles, bones, and joints.

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分解慢性背痛的遗传背景。

慢性背痛（CBP）是一种致残性疾病，终生患病率为40%，是一项重大的社会经济负担。由于CBP的高度异质性，亚表型可能有助于提高预测和支持CBP的个性化治疗。为了研究CBP亚表型，我们将其遗传背景分解为与其他慢性疼痛（背部、颈部、臀部、膝盖、胃部和头部疼痛）共同的遗传背景和CBP特异性的非共享遗传背景。我们鉴定并复制了18个在不同慢性疼痛条件下具有共同影响的基因和两个CBP特异性基因。在患有CBP的人群中，我们证明了考虑CBP共享和非共享遗传背景的多基因风险评分可能支持不同的CBP亚表型。这些亚表型的特点是对不同的医疗状况和干预措施（如糖尿病、心肌梗死、诊断内窥镜手术和涉及肌肉、骨骼和关节的手术）有不同的遗传易感性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human molecular genetics 生物-生化与分子生物学

CiteScore

6.90

自引率

2.90%

发文量

294

审稿时长

2-4 weeks

期刊介绍： Human Molecular Genetics concentrates on full-length research papers covering a wide range of topics in all aspects of human molecular genetics. These include: the molecular basis of human genetic disease developmental genetics cancer genetics neurogenetics chromosome and genome structure and function therapy of genetic disease stem cells in human genetic disease and therapy, including the application of iPS cells genome-wide association studies mouse and other models of human diseases functional genomics computational genomics In addition, the journal also publishes research on other model systems for the analysis of genes, especially when there is an obvious relevance to human genetics.