genome-wide association study; low back pain; polygenic risk score; shared genetic background; subphenotyping; Humans; Female; Male; Multifactorial Inheritance/genetics; Genome-Wide Association Study; Middle Aged; Phenotype; Polymorphism, Single Nucleotide; Adult; Back Pain/genetics; Chronic Pain/genetics; Genetic Predisposition to Disease; Genetic Background; Back Pain; Chronic Pain; Multifactorial Inheritance; Molecular Biology; Genetics; Genetics (clinical)
Abstract :
[en] 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.
Disciplines :
Genetics & genetic processes
Author, co-author :
Elgaeva, Elizaveta E ; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia ; Novosibirsk State University, 1, Pirogova str., 630090, Novosibirsk, Russia
Zorkoltseva, Irina V; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia
Nostaeva, Arina ; Université de Liège - ULiège > Département de gestion vétérinaire des Ressources Animales (DRA) > Génomique animale ; Novosibirsk State University, 1, Pirogova str., 630090, Novosibirsk, Russia
Verzun, Dmitrii A; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia ; Novosibirsk State University, 1, Pirogova str., 630090, Novosibirsk, Russia
Tiys, Evgeny S; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia
Timoshchuk, Anna N; MSU Institute for Artificial Intelligence, Lomonosov Moscow State University, 27, building 1, Lomonosovsky ave., 119991, Moscow, Russia ; Moscow Institute of Physics and Technology, 9, Institutsky lane, 141700, Dolgoprudny, Russia
Kirichenko, Anatoliy V; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia
Svishcheva, Gulnara R; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia ; Vavilov Institute of General Genetics, RAS, 3, Gubkin str., 119991, Moscow, Russia
Freidin, Maxim B; Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, Westminster Bridge Rd., SE1 7EH, London, UK
Williams, Frances M K; Department of Twin Research and Genetic Epidemiology, School of Life Course Sciences, King's College London, Westminster Bridge Rd., SE1 7EH, London, UK
Suri, Pradeep; Department of Rehabilitation Medicine, University of Washington, 325, Ninth ave., WA 98104, Seattle, USA ; VA Puget Sound Health Care System, 1660, South Columbian Way, WA 98108, Seattle, USA
Aulchenko, Yurii S; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia ; PolyOmica, 61, Het Vlaggeschip, 5237 PA, 's-Hertogenbosch, The Netherlands
Axenovich, Tatiana I; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia
Tsepilov, Yakov A; Institute of Cytology and Genetics, Siberian Branch of Russian Academy of Sciences, 10, Ac. Lavrentieva ave., 630090, Novosibirsk, Russia
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