Aspectos genéticos nas afecções do ombro

Cohen, Carina; Figueiredo, Eduardo Antônio de; Belangero, Paulo Santoro; Andreoli, Carlos Vicente; Leal, Mariana Ferreira; Ejnisman, Benno

doi:10.1055/s-0040-1702955

Cited by 3 publications

(7 citation statements)

References 56 publications

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“…2 Genetic variations have been presented as intrinsic risk factors associated with the development of tendinopathy. 2,4,11,24 The gene-environment interaction of some modifiable risk factors, especially in athletes, related to the intensity and volume of training or competitions, and not modifiable, such as the genetic profile of the athlete, may result in a synergistic effect on the manifestation of tendon injury. 25 A systematic review study involving 17 studies on the influence of genes linked to collagen structure and tendon homeostasis observed the relevance of the contribution of polymorphisms in genes encoding collagen with susceptibility to Achilles tendinopathy.…”

Section: Discussionmentioning

confidence: 99%

“…13 COL1A1 and COL1A2 genes are polymorphic and may alter the expression or biological function of type 1 collagen. 9,11,14 The SNPs COL1A1 rs1800012 (C > A) and rs1107946 (G > T), present in the promoter region, were associated with soft tissue injuries of the musculoskeletal system in South African athletes of various sports modalities and in a cohort of nonathletes from the United Kingdom. 9,15 To date, no study has evaluated the influence of SNPs of the COL1A2 gene on tendinopathy.…”

Section: Palavras-chavementioning

confidence: 99%

“…10 Recent studies have shown the influence of single nucleotide polymorphism (SNP) on the susceptibility of tendinopathy. 2,3,6,11 Genetic polymorphism is characterized by the substitution, deletion, or insertion of nucleotides in DNA tape, occurring in > 1% of the population, which may result in changes in the expression or functionality of gene products, determining individual characteristics, including susceptibility to certain diseases and response to some medications. The possible combinations of two alleles that characterize an SNP can form three possibilities of genotypes (heterozygous, wild homozygous or variant), which may or may not differ in phenotypes.…”

Section: Introductionmentioning

confidence: 99%

“…10 Estudos recentes têm mostrado a influência de polimorfismo de nucleotídeo único (SNP, na sigla em inglês) na suscetibilidade da tendinopatia. 2,3,6,11 O polimorfismo genético é caracterizado pela substituição, deleção ou inserção de nucleotídeos na fita de DNA, ocorrendo em > 1% da população, podendo resultar em alteração da expressão ou da funcionalidade dos produtos gênicos, determinando características individuais, incluindo a suscetibilidade a determinadas doenças e a resposta a alguns medicamentos. As combinações possíveis de dois alelos que caracterizam um SNP podem formar três possibilidades de genótipos (heterozigoto, homozigoto selvagem ou variante), que podem ou não diferir em fenótipos.…”

Section: Introductionunclassified

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Polimorfismos genéticos no gene COL1A2 e o risco de tendinopatia: Estudo de caso-controle

Lopes

Guimarães

Amaral

et al. 2023

Rev Bras Ortop (Sao Paulo)

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Resumo Objetivo Avaliar a influência de polimorfismos nos genes que codificam o colágeno tipo I e a suscetibilidade genética da tendinopatia. Metodologia Estudo caso-controle envolvendo 242 atletas brasileiros de diferentes modalidades esportivas (55 casos de tendinopatia e 187 controles). Os polimorfismos COL1A1 (rs1107946) e COL1A2 (rs412777, rs42524 e rs2621215) foram analisados pelo sistema TaqMan. As razões de chance (OR) com seus intervalos de confiança (IC) de 95% foram calculadas usando um modelo de regressão logística não-condicional. Resultados A média de idade foi de 24,0 ± 5,6 anos e 65,3% eram homens. Dos 55 casos de tendinopatia, 25,4% apresentaram mais de um tendão acometido, sendo os mais frequentes o patelar (56,3%), o manguito rotador (30,9%) e o do cotovelo ou flexores das mãos (30,9%). A idade e o tempo de prática esportiva foram associados a uma maior chance de apresentar tendinopatia (5 e 8 vezes, respectivamente). A frequência dos alelos variantes nos controles e casos, respectivamente, foi: COL1A1 rs1107946 24,0 e 29,6%; COL1A2 rs412777 36,1 e 27,8%; rs42524 17,5 e 25,9%; e rs2621215 21,3 e 27,8%. Após ajuste pelos fatores de confundimento (idade e anos de práticas esportiva), os polimorfismos COL1A2 rs42524 e rs2621215 foram associados a um risco aumentado de tendinopatia (OR = 5,5; IC95% = 1,2–24,6 e OR = 3,9; IC95% = 1,1–13,5, respectivamente). O haplótipo COL1A2 CGT foi associado a um baixo risco para desenvolvimento da doença (OR = 0,5; IC95% = 0,3–0,9). Conclusão A idade (≥ 25 anos), o tempo de prática esportiva (≥ 6 anos) e polimorfismos no gene COL1A2 aumentaram o risco de desenvolvimento da tendinopatia.

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Section: Discussionmentioning

confidence: 99%

Section: Palavras-chavementioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionunclassified

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Polimorfismos genéticos no gene COL1A2 e o risco de tendinopatia: Estudo de caso-controle

Lopes

Guimarães

Amaral

et al. 2023

Rev Bras Ortop (Sao Paulo)

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“…Another common sports injury is given by the rotator cuff pathology ( Blevins, 1997 ). Recent genomics studies have identified some SNPs ( Cohen et al, 2020 ; Tashjian et al, 2021 ) involving the gene encoding Zinc Finger Protein 804A (ZNF804A), the glucocorticoid induced 1 gene (GLCCI1), and the gene encoding the thrombospondin type-1 domain-containing protein 7A (THSD7A) as molecular factors responsible for the development of shoulder pathologies. Some genes, such as THSD7A, were found to be downregulated, whereas other genes such as those coding the tissue inhibitor of MMP type 2 (TIMP2), Collagen Type V Alpha 1 Chain (Col5A1), Transforming Growth Factor Beta Receptor 1 (TGFBR1), and tenascin C (TNC), were detected to be upregulated.…”

Section: Sports Genetics/genomicsmentioning

confidence: 99%

Molecular Big Data in Sports Sciences: State-of-Art and Future Prospects of OMICS-Based Sports Sciences

Sellami

Elrayess

Puce

et al. 2022

Front. Mol. Biosci.

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Together with environment and experience (that is to say, diet and training), the biological and genetic make-up of an athlete plays a major role in exercise physiology. Sports genomics has shown, indeed, that some DNA single nucleotide polymorphisms (SNPs) can be associated with athlete performance and level (such as elite/world-class athletic status), having an impact on physical activity behavior, endurance, strength, power, speed, flexibility, energetic expenditure, neuromuscular coordination, metabolic and cardio-respiratory fitness, among others, as well as with psychological traits. Athletic phenotype is complex and depends on the combination of different traits and characteristics: as such, it requires a “complex science,” like that of metadata and multi-OMICS profiles. Several projects and trials (like ELITE, GAMES, Gene SMART, GENESIS, and POWERGENE) are aimed at discovering genomics-based biomarkers with an adequate predictive power. Sports genomics could enable to optimize and maximize physical performance, as well as it could predict the risk of sports-related injuries. Exercise has a profound impact on proteome too. Proteomics can assess both from a qualitative and quantitative point of view the modifications induced by training. Recently, scholars have assessed the epigenetics changes in athletes. Summarizing, the different omics specialties seem to converge in a unique approach, termed sportomics or athlomics and defined as a “holistic and top-down,” “non-hypothesis-driven research on an individual’s metabolite changes during sports and exercise” (the Athlome Project Consortium and the Santorini Declaration) Not only sportomics includes metabonomics/metabolomics, but relying on the athlete’s biological passport or profile, it would enable the systematic study of sports-induced changes and effects at any level (genome, transcriptome, proteome, etc.). However, the wealth of data is so huge and massive and heterogenous that new computational algorithms and protocols are needed, more computational power is required as well as new strategies for properly and effectively combining and integrating data.

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Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population

Barros

Anna²,

Alcântara³

et al. 2023

Genes

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Background: Rotator cuff disease is one of the leading causes of musculoskeletal pain and disability, and its etiology is most likely multifactorial but remains incompletely understood. Therefore, the objective of this research was to investigate the relationship of the single-nucleotide rs820218 polymorphism of the SAP30-binding protein (SAP30BP) gene with rotator cuff tears in the Amazonian population. Methods: The case group consisted of patients who were operated on due to rotator cuff tears in a hospital in the Amazon region between 2010 and 2021, and the control group was composed of individuals who were selected after negative physical examinations for rotator cuff tears. Genomic DNA was obtained from saliva samples. For the genotyping and allelic discrimination of the selected single nucleotide polymorphism (rs820218) in the SAP30BP gene, real-time PCR was performed. Results: The frequency of the A allele in the control group was four times as high as that in the case group (AA homozygotes); an association of the genetic variant rs820218 of the SAP30BP gene with rotator cuff tears was not established (p = 0.28 and 0.20), as the A allelic frequency is ordinarily low in the general population. Conclusions: The presence of the A allele indicates protection against rotator cuff tears.

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Aspectos genéticos nas afecções do ombro

Cited by 3 publications

References 56 publications

Polimorfismos genéticos no gene COL1A2 e o risco de tendinopatia: Estudo de caso-controle

Polimorfismos genéticos no gene COL1A2 e o risco de tendinopatia: Estudo de caso-controle

Molecular Big Data in Sports Sciences: State-of-Art and Future Prospects of OMICS-Based Sports Sciences

Association between the rs820218 Variant within the SAP30BP Gene and Rotator Cuff Rupture in an Amazonian Population

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