Association between transforming growth factor-beta 1 gene single nucleotide polymorphisms and knee osteoarthritis susceptibility in a Chinese Han population

Lü, Ning; Lu, Jian; Zhou, Chenhe; Zhong, Fuhua

doi:10.1177/0300060517705719

Cited by 8 publications

(4 citation statements)

References 31 publications

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“…However, Min-yu-tu et al showed that the CC-genotype of TGF-β could be protective in the progression of osteoporosis [ 48 ]. Liu C et al showed different findings from ours, where they found TT genotype and T-allele to be significantly associated with the susceptibility to OA, as other studies reported previously [ 30 , 49 , 50 , 51 ], although some studies did not find any association [ 52 ]. The position of TGF-β (-509C/T) is in the negative regulatory region of the TGF-β1 promotor.…”

Section: Discussioncontrasting

confidence: 81%

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Yadav

Goyal

Mamgain

et al. 2023

Cells

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Chronic cervical spondylitis (CCS), a degenerative disorder of the spine, is known for causing disability among old and young people. Single-nucleotide polymorphisms (SNPs) in various cytokine genes have demonstrated an impactful association with several inflammatory disorders. In the present study, we have investigated the SNPs and allelic distribution of the three most prevalent cytokines genes, IL-1β (-511C/T), TNF-α (-308G/A), and TGF-β (-509C/T), along with serum levels of these cytokines in 252 subjects. SNPs were analyzed using the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP), and digested fragments were separated and visualized using agarose gel electrophoresis and Native Polyacrylamide gel electrophoresis (PAGE). The serum cytokine levels were analyzed with a flow cytometer using a customized multiplex bead-based assay. It was observed that these SNPs did not reflect the susceptibility to CCS but were associated with susceptibility to CCS. We found a significant association between the C/C and G/G genotypes and the C and G alleles of IL-1β and TNF-α, respectively, suggesting a lower risk of CCS. The frequency distribution of risk alleles (-511T) and (-308A) were simultaneously higher in CCS compared to the control, reflecting the susceptibility to CCS. TGF-β showed a significant association with disease susceptibility, along with a significant correlation between age and the chronicity of CCS. The serum cytokine levels were significantly different in CCS and controls.

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Section: Discussioncontrasting

confidence: 81%

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Yadav

Goyal

Mamgain

et al. 2023

Cells

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“…The relative expression levels of matrix metalloproteinase 13 ( MMP13 ) and type II collagen ( COL2A1 ) mRNA were measured, while 18S rRNA was used as an internal reference as described in our previous study. 21 …”

Section: Methodsmentioning

confidence: 99%

Genetic variation of SMAD3 is associated with hip osteoarthritis in a Chinese Han population

Zhong

Wang

et al. 2018

J Int Med Res

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ObjectiveThis study was performed to investigate the association between genetic variation in SMAD3 and hip osteoarthritis (OA) in a Chinese Han population.MethodsThe frequency of two single nucleotide polymorphisms of SMAD3, rs1470002 and rs12901499, was examined in 500 patients with hip OA and 1080 healthy controls in a Chinese Han population. Further analysis was performed according to sex and age.ResultsWe detected statistically significant differences in the allele frequency and genotype between the hip OA and healthy control groups. The frequency of the GA+GG and GA genotypes of rs12901499 and the G variant were much higher in patients with hip OA than in healthy controls. This association was also present when the participants were stratified by sex and age. However, there was no significant association between the risk of hip OA and the presence of rs1470002 GA, AA, or GA+AA genotypes, even after sex- and age-stratified analysis.ConclusionsThe SMAD3 SNP rs12901499 GA genotype and G variant may increase the risk of hip OA in Chinese Han patients.

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“…Furthermore, the C allele and CC genotype of the rs12700386 SNP increases the risk of a knee OA in the Chinese Han population [111]. The TGF-β1 SNP rs1982073 was also found to increase the risk of knee OA (allele C; genotypes CT and CC) [112]. TT genotype (rs1800470), as well as T allele and TT genotype (rs1800469) were correlated with the occurrence of OA [113].…”

Section: Interleukinmentioning

confidence: 99%

The Role of Genetics and Epigenetic Regulation in the Pathogenesis of Osteoarthritis

Kiełbowski

Herian

Bakinowska

et al. 2023

IJMS

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Osteoarthritis (OA) is progressive disease characterised by cartilage degradation, subchondral bone remodelling and inflammation of the synovium. The disease is associated with obesity, mechanical load and age. However, multiple pro-inflammatory immune mediators regulate the expression of metalloproteinases, which take part in cartilage degradation. Furthermore, genetic factors also contribute to OA susceptibility. Recent studies have highlighted that epigenetic mechanisms may regulate the expression of OA-associated genes. This review aims to present the mechanisms of OA pathogenesis and summarise current evidence regarding the role of genetics and epigenetics in this process.

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Association between transforming growth factor-beta 1 gene single nucleotide polymorphisms and knee osteoarthritis susceptibility in a Chinese Han population

Cited by 8 publications

References 31 publications

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Genetic Variations in IL-1β, TNF-α, and TGF-β Associated with the Severity of Chronic Cervical Spondylitis in Patients

Genetic variation of SMAD3 is associated with hip osteoarthritis in a Chinese Han population

The Role of Genetics and Epigenetic Regulation in the Pathogenesis of Osteoarthritis

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