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. 2025 Apr 6;34(8):711-725.
doi: 10.1093/hmg/ddae195.

Decomposing the genetic background of chronic back pain

Elizaveta E Elgaeva  1   2 , Irina V Zorkoltseva  1 , Arina V Nostaeva  2 , Dmitrii A Verzun  1   2 , Evgeny S Tiys  1 , Anna N Timoshchuk  3   4 , Anatoliy V Kirichenko  1 , Gulnara R Svishcheva  1   5 , Maxim B Freidin  6 , Frances M K Williams  6 , Pradeep Suri  7   8 , Yurii S Aulchenko  1   9 , Tatiana I Axenovich  1 , Yakov A Tsepilov  1
Affiliations
Free article

Decomposing the genetic background of chronic back pain

Elizaveta E Elgaeva et al. Hum Mol Genet. .
Free article

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.

Keywords: genome-wide association study; low back pain; polygenic risk score; shared genetic background; subphenotyping.

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