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GWAS Study

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

Tsepilov YA, Freidin MB, Shadrina AS et al.

32587327 PubMed ID
GWAS Study Type
456580 Participants
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Chapter I

Publication Details

Comprehensive information about this research publication

Authors

TY
Tsepilov YA
FM
Freidin MB
SA
Shadrina AS
SS
Sharapov SZ
EE
Elgaeva EE
ZJ
Zundert JV
KL
Karssen LС
SP
Suri P
WF
Williams FMK
AY
Aulchenko YS
Chapter II

Abstract

Summary of the research findings

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.

265,000 European ancestry individuals

Chapter III

Study Statistics

Key metrics and study information

456580
Total Participants
GWAS
Study Type
Yes
Replicated
174,831 European ancestry individuals, 7,541 African ancestry individuals, 9,208 South Asian ancestry individuals
Replication Participants
European, African unspecified, South Asian
Ancestry
U.K.
Recruitment Country
Chapter IV

Analysis

Comprehensive review of health and genetic findings

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Analysis In Progress

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