The Transforming Growth Factor-β1 (TGF-β1) Gene Polymorphisms (TGF-β1 T869C and TGF-β1 T29C) and Susceptibility to Postmenopausal Osteoporosis

Sun, Jiajia; Zhang, Chi; Xu, Lei; Yang, Mingyuan; Yang, Huilin

doi:10.1097/md.0000000000000461

Cited by 20 publications

(27 citation statements)

References 25 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Although evidence of the involvement of these genes in the pathobiology of RCT was already reported, this is the first study to show that SNPs of these genes may modulate the risk of this injury. Both variants were previously reported as a risk factor for several inflammatory and aging‐related diseases, including common musculoskeletal diseases (for rs17576: lumbar disc degeneration; for rs1800470: osteoporosis), diabetes, and dyslipidemia . The association of the studied variants with diabetes and dyslipidemia again reinforces the necessity to add these co‐morbidities as covariables in RCT risk models to identify the SNPs that are independent risk factors.…”

Section: Discussionmentioning

confidence: 55%

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Figueiredo

Loyola

Belangero

et al. 2019

Journal Orthopaedic Research

View full text Add to dashboard Cite

Rotator cuff tears (RCT) is a multifactorial disease with genetic factors contributing for the disease etiology. We hypothesized that genetic variants in genes involved in extracellular matrix (ECM) homeostasis may alter susceptibility to RCT. We evaluated 20 polymorphisms of genes involved in ECM homeostasis in 211 cases of full‐thickness tears of the supraspinatus (Nfemales = 130; Nmales = 81) and 567 age‐matched controls (Nfemales = 317; Nmales = 250). Multivariate logistic regressions were carried out with age, gender, genetic ancestry (based on the analysis of 61 biallelic short insertion/deletion polymorphisms), and common co‐morbidities (diabetes, dyslipidemia, and smoking habits) as covariates. We observed that carriers of the rare allele of both studied variants of TGFB1, as well as their G/A (rs1800470/rs1800469) haplotype, were less susceptible to RCT (p < 0.05). In contrast, carriers of the G allele of MMP9 rs17576 (p = 0.014) or G/G haplotype (rs17576/rs17577; p < 0.001) had an increased risk for tendon tears. The presence of the T allele of MMP2 rs2285053 (p = 0.033), the T allele of MMP3 rs679620 (p = 0.024), and the TT‐genotype of TIMP2 rs2277698 (p = 0.01) was associated with susceptibility to tears, especially in females. In males, the A allele of COL5A1 rs3196378 (p = 0.032) and the G allele of TGFBR1 rs1590 (p = 0.039) were independent risk factors for RCT. The C/T COL5A1 (rs3196378/rs11103544) haplotype was associated with a reduced risk of tears in males (p = 0.03). In conclusion, we identified the genetic variants associated with RCT susceptibility, thereby reinforcing the role of genes involved in the structure and homeostasis of the ECM of tendons in disease development. © 2019 Orthopaedic Research Society. Published by Wiley Periodicals, Inc. J Orthop Res 38:192–201, 2020

show abstract

Section: Discussionmentioning

confidence: 55%

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Figueiredo

Loyola

Belangero

et al. 2019

Journal Orthopaedic Research

View full text Add to dashboard Cite

show abstract

“…These studies strongly suggested that TGF-β1 was protective against COPD development. The TGF-β1 polymorphism rs1982073 is a C→T substitution, resulting in a proline to leucine substitution at codon 10 [ 33 ]. It was reported that the C allele of rs1982073 was associated with higher TGF-β1 mRNA and protein levels [ 34 , 35 ].…”

Section: Discussionmentioning

confidence: 99%

Association between the TGF-β1 polymorphisms and chronic obstructive pulmonary disease: a meta-analysis

et al. 2017

View full text Add to dashboard Cite

It has been hypothesized that polymorphisms in the transforming growth factor-β1 (TGF-β1) gene on chromosome 19 modify the risk for chronic obstructive pulmonary disease (COPD). However, results from previous studies are contradictory. We therefore conducted a meta-analysis of published case–control studies on the association between five common TGF-β1 polymorphisms (rs1982073, rs1800469, rs2241712, rs6957, and rs2241718) and COPD risk. Data sources were Pubmed, Scopus, ISI Web of Science, China National Knowledge Infrastructure (CNKI), and Wanfang databases. Twelve studies including 6749 participants were reviewed and analyzed. For the TGF-β1 polymorphism rs1982073, the results indicted that the C allele was associated with decreased risk of COPD in Caucasians (odds ratio (OR) =0.79, 95% confidence interval (CI): 0.64–0.99, P=0.038) but not in Asians (OR =0.95, 95% CI: 0.71–1.28, P=0.741). No associations with COPD were identified for other polymorphisms evaluated in the present study including rs1800469 (T allele compared with C allele, OR =0.89, 95% CI: 0.77–1.02, P=0.099), rs2241712 (A allele compared with G allele, OR =1.03, 95% CI: 0.89–1.20, P=0.666), rs6957 (A allele compared with G allele, OR =1.14, 95% CI: 0.95–1.36, P=0.160), and rs2241718 (C allele compared with T allele, OR =0.95, 95% CI: 0.79–1.14, P=0.571). In conclusion, this meta-analysis showed that the C allele of rs1982073 was protective against COPD in Caucasians but not in Asians, whereas there was no association of rs1800469, rs2241712, rs6957, and rs2241718 with COPD.

show abstract

“…26 TGF-b1 T869C/T29C polymorphisms were markedly associated with postmenopausal osteoporosis risk in Asians, not in Caucasians. 27 CC genotype and T allele of TGF-b1 T869C polymorphism were distinctly associated with diabetic nephropathy risk in the Asian population. 28 Furthermore, larger number of studies should be performed to compare the differences between Asians and Caucasians.…”

Section: Discussionmentioning

confidence: 99%

Association of transforming growth factor-β1 polymorphisms with the risk of chronic kidney diseases

2015

View full text Add to dashboard Cite

The association of transforming growth factor-b1 (TGF-b1) polymorphisms with the risk of chronic kidney diseases (CKD) remains elusive. We aimed to perform a meta-analysis to evaluate the relationship between TGF-b1 polymorphisms and the susceptibility to CKD. Association studies were searched according to a defined criteria using electronic databases. The strength of association between TGF-b1 polymorphisms and CKD risk was evaluated by odds ratio (OR) with the corresponding 95% confidence interval (CI). Nine case-control studies were identified. T allele at the +869 T/C polymorphism was associated with a lower risk of CKD in Asians (p ¼ 0.003). TT genotype at the +869 T/C polymorphism was associated with a lower risk of CKD in overall populations and Asians (p ¼ 0.007 and 510 À4

show abstract

The Transforming Growth Factor-β1 (TGF-β1) Gene Polymorphisms (TGF-β1 T869C and TGF-β1 T29C) and Susceptibility to Postmenopausal Osteoporosis

Cited by 20 publications

References 25 publications

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Rotator Cuff Tear Susceptibility Is Associated With Variants in Genes Involved in Tendon Extracellular Matrix Homeostasis

Association between the TGF-β1 polymorphisms and chronic obstructive pulmonary disease: a meta-analysis

Association of transforming growth factor-β1 polymorphisms with the risk of chronic kidney diseases

Contact Info

Product

Resources

About