Abstract
BackgroundSeveral studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthritis (OA), but the results are inconsistent. The aim of our study was to evaluate the association between them comprehensively.MethodsA systematical search was conducted on PubMed, Scopus, Web of Science (WOS), Embase, and the Cochrane Library databases updated to April 20, 2018. Eligible studies about polymorphisms in GDF5 gene and risk of IDD or OA were included. Pooled odds ratios (ORs) and 95% confidence intervals (95% CIs) were utilized.ResultsFifteen studies with a total of 5915 cases and 12,252 controls were finally included in our study. Meta-analysis of GDF5 rs143383 polymorphism was statistically associated with increased risk of musculoskeletal degenerative diseases under each genetic model (allele model: OR = 1.32, 95% CI 1.19–1.48, P = 0.000; homozygote model: OR = 1.80, 95%CI 1.49–2.16, P = 0.000; heterozygote model: OR = 1.37, 95%CI 1.21–1.55, P = 0.000; dominant model: OR = 1.56, 95%CI 1.39–1.75, P = 0.000; recessive model: OR = 1.39, 95%CI 1.20–1.60, P = 0.000). Stratified analyses based on disease type showed a significant association between the GDF5 rs143383 polymorphism and increased risk of IDD and OA under all genetic models studied. When stratified with ethnicity, pooled outcomes revealed that this polymorphism was significantly related with increased risk of musculoskeletal degenerative diseases in both Asian and Caucasian populations under all genetic models studied.ConclusionsThe present study suggested that GDF5 rs143383 polymorphism was significantly associated with susceptibility to musculoskeletal degenerative diseases.
Highlights
Several studies have assessed the association between Growth differentiation factor 5 (GDF5) rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthritis (OA), but the results are inconsistent
Inclusion and exclusion criteria A study that is eligible for inclusion must meet the following criteria: (1) case–control study or cohort study including both case and control groups, (2) detection of GDF5 polymorphisms and IDD or OA risk, (3) having an accessible genotype frequency for calculating an odds ratio (OR) or hazard ratio (HR) with 95% confidence interval, (4) genotype frequencies in controls must conform to Hardy-Weinberg equilibrium (HWE)
There was a significant relationship between GDF5 rs143383 polymorphism and increased risk of musculoskeletal degenerative diseases under each genetic model (Fig. 2 and Table 3)
Summary
Several studies have assessed the association between GDF5 rs143383 polymorphism and the susceptibility of musculoskeletal degenerative diseases, such as intervertebral disc degeneration (IDD) and osteoarthritis (OA), but the results are inconsistent. Intervertebral disc degeneration (IDD) and osteoarthritis (OA) are two major musculoskeletal degenerative diseases that bring about pain, physical limitations and disability of patients. IDD has been one of the important causes to low back pain (LBP) and motor deficiency. Lumbar disc herniation (LDH) is caused mainly by IDD because the degeneration and herniation of nucleus pulposus exist in the lumbar intervertebral disc [1]. Studies have revealed the significant value of GDF5 gene in musculoskeletal processes including endochondral ossification, synovial joint formation, tendon repair and bone production [8,9,10]
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