Carpal tunnel syndrome: The role of collagen gene variants

Dada, Suhail; Burger, Marilize; Massij, Franka; Wet, Hanli de; Collins, Malcolm

doi:10.1016/j.gene.2016.04.030

Cited by 20 publications

(17 citation statements)

References 32 publications

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“…COL11A1 encodes α1(XI), one of the three chains that constitute the triple helix in type XI collagen 56 . Type XI collagen has been implicated in a range of musculoskeletal conditions, including lumbar disc herniation 57 , Achilles tendinopathy 58 , and CTS 59 . In the latter study, homozygotes of the T allele at rs3753841 (a missense mutation) in COL11A1 were found to be significantly over-represented in CTS patients vs controls.…”

Section: Discussionmentioning

confidence: 99%

“…The subsynovial connective tissues (SSCTs) within the carpal tunnel have previously been proposed to play an important role in the pathophysiology of CTS 59,60 , and the SSCTs from CTS patients show evidence of fibrosis 12,13 . The fibrosis and thickening of SSCT may result in an increased pressure acting on the median nerve, which may in turn interfere with neural biomechanics 61 and microcirculation 62 , which initiates downstream mechanisms such as demyelination 63 , impaired axonal transport 64 and altered nerve conduction 65 .…”

Section: Discussionmentioning

confidence: 99%

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A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

Wiberg

Schmid

et al. 2019

Nat Commun

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Carpal tunnel syndrome (CTS) is a common and disabling condition of the hand caused by entrapment of the median nerve at the level of the wrist. It is the commonest entrapment neuropathy, with estimates of prevalence ranging between 5-10%. Here, we undertake a genome-wide association study (GWAS) of an entrapment neuropathy, using 12,312 CTS cases and 389,344 controls identified in UK Biobank. We discover 16 susceptibility loci for CTS with p < 5 × 10 −8. We identify likely causal genes in the pathogenesis of CTS, including ADAMTS17, ADAMTS10 and EFEMP1, and using RNA sequencing demonstrate expression of these genes in surgically resected tenosynovium from CTS patients. We perform Mendelian randomisation and demonstrate a causal relationship between short stature and higher risk of CTS. We suggest that variants within genes implicated in growth and extracellular matrix architecture contribute to the genetic predisposition to CTS by altering the environment through which the median nerve transits.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

Wiberg

Schmid

et al. 2019

Nat Commun

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“…The relationship between gene polymorphism of COL1A1 gene and osteoporosis is mostly reported [ 3 , 4 ]. Some articles also found the connection between COL1A1 gene and other diseases in musculoskeletal system, such as sports-related tendon and ligament injuries [ 5 ], osteogenesis imperfecta [ 6 , 7 ], osteosarcoma [ 8 ], idiopathic carpal tunnel syndrome [ 9 ]. And among various polymorphisms within the COL1A1 gene, the most frequently studied polymorphism is the +1245G/T polymorphism (rs1800012, Sp1), which is a G to T polymorphism siting within the first intron of COL1A1 gene influencing a binding site for the transcription factor Sp1 [ 4 , 10 ].…”

Section: Introductionmentioning

confidence: 99%

Association of COL1A1 rs1800012 polymorphism with musculoskeletal degenerative diseases: a meta-analysis

Zhong

Huang

et al. 2017

Oncotarget

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It has been reported that the single nucleotide polymorphism (SNP) rs1800012 in COL1A1 gene might be linked to the susceptibility of musculoskeletal degenerative diseases, such as osteoarthritis (OA) and intervertebral disc degeneration (IVDD). However, the data from different studies is contradictory. Here we aimed to comprehensively summarize and clarify the relationship between the SNP and musculoskeletal degenerative diseases. Seven eligible studies including 1339 cases and 5406 controls were screened out from PubMed, Web Of Science and Cochrane library databases. Significant association was identified in sub group analysis of IVDD in homozygote model (GG versus TT: OR = 0.33, 95% CI 0.14–0.78, P = 0.012), heterozygote model (GT versus TT: OR = 0.29, 95% CI 0.11–0.72, P = 0.008) and dominant model (GG/GT versus TT: OR = 0.31, 95% CI 0.13–0.74, P = 0.008). Additionally, significant relationship was also found in sub group analysis of severe degree of IVDD in homozygote model (GG versus TT: OR = 0.37, 95% CI 0.15–0.91, P = 0.031), heterozygote model (GT versus TT: OR = 0.33, 95% CI 0.13–0.87,P = 0.024) and dominant model (GG/GT versus TT: OR = 0.36, 95% CI 0.14–0.88, P = 0.025). Although no significance was observed, there is a trend that the more G allele at COL1A1 rs1800012 site, the less possibility of IVDD and severe IVDD would happen. Our results indicate that COL1A1 rs1800012 polymorphism associates with the susceptibility of IVDD. However, this polymorphism may not be associated with OA risk.

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“…Several gene groups are involved in the regulation and modulation of these mechanisms, and results from the presented studies have shown their possible effect on the development of carpal tunnel syndrome. Variants within the COL1A1, COL5A1 and COL11A1 genes encoding synthesis of minor collagen subtypes may be potentially involved, as they alter the mechanical properties of tendons and other connective tissue structures within the carpal tunnel [15]. The collagen within connective tissue structures is also remodelled by matrix metalloproteinases (MMPs) and variants of these genes have also been investigated for their possible role in the risk of CTS development [16].…”

Section: Discussionmentioning

confidence: 99%

Familial occurrence of carpal tunnel syndrome

Puchalski

Szlosser

Żyluk

2019

Neurol Neurochir Pol.

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The objective of this study was to investigate the incidence of familial carpal tunnel syndrome in patients admitted to the authors' institution for carpal tunnel release. Questionnaires completed by 120 patients: 92 women (77%) and 28 men (23%) at a mean age of 56 years at their baseline clinical examination were reviewed. Familial occurrence of the disease was noted in 21 patients (17%): 16 women and five men. Three family members were affected in three patients, two relatives in eight patients, and one relative in 10 patients, giving a total of 35 affected relatives. The patients' sisters (n = 16) were the most commonly involved, followed by mothers (n = 12), daughters (n = 2), brothers (n = 2), grandmothers (n = 2) and an aunt (n = 1). Bilateral manifestation of the disease was noted in 19 patients (90%) and in 31 (88%) of their affected relatives. The results suggest that carpal tunnel syndrome shows a moderate tendency to familial occurrence and, if so, it usually manifests bilaterally.

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Carpal tunnel syndrome: The role of collagen gene variants

Cited by 20 publications

References 32 publications

A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

A genome-wide association analysis identifies 16 novel susceptibility loci for carpal tunnel syndrome

Association of COL1A1 rs1800012 polymorphism with musculoskeletal degenerative diseases: a meta-analysis

Familial occurrence of carpal tunnel syndrome

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