Decomposing the genetic background of chronic back pain

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

doi:10.1093/hmg/ddae195

Decomposing the genetic background of chronic back pain

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

Twin Research & Genetic Epidemiology

Research output: Contribution to journal › Article › peer-review

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.

Original language	English
Pages (from-to)	711-725
Number of pages	15
Journal	Human Molecular Genetics
Volume	34
Issue number	8
Early online date	3 Feb 2025
DOIs	https://doi.org/10.1093/hmg/ddae195
Publication status	Published - 15 Apr 2025

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Elgaeva, E. E., Zorkoltseva, I. V., Nostaeva, A. V., Verzun, D. A., Tiys, E. S., Timoshchuk, A. N., Kirichenko, A. V., Svishcheva, G. R., Freidin, M. B., Williams, F. M. K., Suri, P., Aulchenko, Y. S., Axenovich, T. I., & Tsepilov, Y. A. (2025). Decomposing the genetic background of chronic back pain. Human Molecular Genetics, 34(8), 711-725. https://doi.org/10.1093/hmg/ddae195

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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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AU - Zorkoltseva, Irina V

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AU - Verzun, Dmitrii A

AU - Tiys, Evgeny S

AU - Timoshchuk, Anna N

AU - Kirichenko, Anatoliy V

AU - Svishcheva, Gulnara R

AU - Freidin, Maxim B

AU - Williams, Frances M K

AU - Suri, Pradeep

AU - Aulchenko, Yurii S

AU - Axenovich, Tatiana I

AU - Tsepilov, Yakov A

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AB - 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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JO - Human Molecular Genetics

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Decomposing the genetic background of chronic back pain

Abstract

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