I am a
Home I AM A Search Login

Papers of the Week

Papers: 27 Jun 2020 - 3 Jul 2020

Human Studies

2020 Jun 25

Commun Biol



Analysis of genetically independent phenotypes identifies shared genetic factors associated with chronic musculoskeletal pain conditions.


Tsepilov YA, Freidin MB, Shadrina AS, Sharapov SZ, Elgaeva EE, Van Zundert J, Karssen LС, Suri P, Williams FMK, Aulchenko YS
Commun Biol. 2020 Jun 25; 3(1):329.
PMID: 32587327.


Chronic musculoskeletal pain affects all aspects of human life. However, mechanisms of its genetic control remain poorly understood. Genetic studies of pain are complicated by the high complexity and heterogeneity of pain phenotypes. Here, we apply principal component analysis to reduce phenotype heterogeneity of chronic musculoskeletal pain at four locations: the back, neck/shoulder, hip, and knee. Using matrices of genetic covariances, we constructed four genetically independent phenotypes (GIPs) with the leading GIP (GIP1) explaining 78.4% of the genetic variance of the analyzed conditions, and GIP2-4 explain progressively less. We identified and replicated five GIP1-associated loci and one GIP2-associated locus and prioritized the most likely causal genes. For GIP1, we showed enrichment with multiple nervous system-related terms and genetic correlations with anthropometric, sociodemographic, psychiatric/personality traits and osteoarthritis. We suggest that GIP1 represents a biopsychological component of chronic musculoskeletal pain, related to physiological and psychological aspects and reflecting pain perception and processing.