Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Wang, Chunguang; Li, Hao; Chen, Kang; Wu, Bing; Liu, Haifeng

doi:10.18632/oncotarget.15271

Cited by 39 publications

(41 citation statements)

References 23 publications

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“…: osteogenesis imperfecta) 15,17,21 . Complex gene-gene and gene-environment interactions alter the severity of the phenotype in non-Mendelian pattern inherited conditions like ACL tear 7,21 . Recently, Yao et al linked the rs1107946 polymorphism to the geometric size of ACL in the Chinese population 22 .…”

Section: Muscles Ligaments and Tendonsmentioning

confidence: 99%

“…Wang et al examined association of SNPs and sports-related ligament and tendon COL1A1 injuries (like ACL tear, Achilles tendinopathy, tennis elbow and should dislocation). They observed that the rare TT genotype may be protective against these sports-related ligament/tendon injuries 7 . Apart from sports injuries, the rs18000012 SNP of COL1A1 gene has most notably been linked to osteoporosis; various other complex disorders of connective tissue, including, myocardial infarction, lumbar disc disease and stress urinary incontinence have also shown association with this SNP [26][27][28][29] .…”

Section: Muscles Ligaments and Tendonsmentioning

confidence: 99%

“…Over the last decade, 33 different single nucleotide polymorphisms (SNPs) of various genes have been investigated for association with ACL tear 5-7. COL1A1 rs1800012 polymorphism was the first specific gene polymorphism to be positively associated with ACL tear 3,4 . It is also the most extensively investigated SNP in the literature with various research teams having investigated the association between COL1A1 SNPs and ACL tear in different Caucasian population subsets with mixed results [5][6][7][8] . However, till date, there is no data from the Asian continent on the association of COL1A1 SNPs and ACL tear 7 .…”

Section: Introductionmentioning

confidence: 99%

“…It is also the most extensively investigated SNP in the literature with various research teams having investigated the association between COL1A1 SNPs and ACL tear in different Caucasian population subsets with mixed results [5][6][7][8] . However, till date, there is no data from the Asian continent on the association of COL1A1 SNPs and ACL tear 7 . We conducted a genetic association, case-control study to investigate the association between SNPs of COL1A1 gene and ACL tear in the Indian population.…”

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

Prabhakar

John

Dhillon

et al. 2019

Muscle Ligaments and Tendons J

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Introduction: Despite the identification of various intrinsic and extrinsic risk factors associated with ACL tear, the exact etiopathogenesis of ACL tear is still incompletely understood. The evidence for association of COL1A1 gene polymorphisms with ACL tear has been somewhat conflicting. Objective of the study is: to determine if rs1800012 and rs1107946 polymorphisms of COL1A1 gene are associated with ACL tear in an Indian population study group. Methods: Fifty clinically, radiologically and surgically-proven ACL deficient patients and 52 healthy controls were included in the study. After isolation of DNA from peripheral blood monocytes, real time PCR was carried out to genotype COL1A1 rs1800012 and rs1107946 polymorphisms. Results: Both the groups were matched for age and sex. Hardy Weinberg equilibrium was maintained for both genotypes. There was no signifi-cant difference in the genotype or allele distribution between the case and control groups for both rs1800012 (p=0.516) and rs1107946 polymorphisms (p=0.971 for GT and p=0.823 for TT) in this preliminary study. Conclusion: The rs1800012 polymorphism of COL1A1 gene remains the first and most extensively tested gene polymorphism for its association with ACL tear. Under-representation of the TT genotype has been observed in Swedish and South African Caucasian populations with ACL tear. This has not been noted in the Polish Caucasian population and in our study. More studies with larger study samples from different ethnic populations are needed before COL1A1 gene polymorphism screening tests are incorporated into ACL tear prevention programs. Level of evidence: III b (case-control study).KEY WORDS: anterior cruciate ligament (ACL), COL1A1 gene, single nucleotide polymorphism, genotype frequency, allele frequency.

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Section: Muscles Ligaments and Tendonsmentioning

confidence: 99%

Section: Muscles Ligaments and Tendonsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 2 more Smart Citations

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

Prabhakar

John

Dhillon

et al. 2019

Muscle Ligaments and Tendons J

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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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Functional COL1A1 variants are associated with the risk of acute musculoskeletal soft tissue injuries

Gibbon

Raleigh

Ribbans

et al. 2020

Journal Orthopaedic Research

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Studies have reported the association of the COL1A1 Sp1 binding site variant (rs1800012) with the risk of acute musculoskeletal soft tissue injuries. Interaction with the COL1A1 promoter variant (rs1107946) has also been proposed to modulate acute injury risk. Conversely, neither of these loci have been associated with chronic musculoskeletal soft tissue phenotypes. Therefore, the primary aim of this study involved characterizing these variants in a cohort of participants with chronic Achilles tendinopathy. Second, this study aimed to support the contribution of the rs1107946 and rs1800012 variants to the profile predisposing for acute musculoskeletal soft tissue injuries including Achilles tendon and anterior cruciate ligament (ACL) ruptures. A hypothesis‐driven association study was conducted. In total, 295 control participants, 210 participants with clinically diagnosed Achilles tendinopathy, and 72 participants with Achilles tendon ruptures recruited independently from South Africa and the United Kingdom were genotyped for the prioritized variants. In addition, a cohort including 232 control participants and 234 participants with surgically diagnosed ACL ruptures was also analyzed. Although no associations were observed in the recruited cohorts, the rare rs1800012 TT genotype was associated with decreased ACL injury risk when the results from the current study were combined with that from previously published studies (P = .040, OR: 2.8, 95% CI: 1.0‐11.0). In addition, the G‐T (rs1107946‐rs1800012) inferred haplotype was associated with decreased risk for Achilles tendon ruptures. These results support previous observations and reiterate the heterogeneity of musculoskeletal phenlotypes whereby certain markers may be common to the predisposing profiles while others may be unique.

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Association of polymorphisms rs1800012 in COL1A1 with sports-related tendon and ligament injuries: a meta-analysis

Cited by 39 publications

References 23 publications

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

Are COL1A1 gene polymorphisms associated with anterior cruciate ligament tear in the Indian population? Results of a preliminary case-control study

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

Functional COL1A1 variants are associated with the risk of acute musculoskeletal soft tissue injuries

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