Association between SIRT1 Gene Polymorphisms and Breast Cancer in Egyptians

Rizk, Sherine M.; Shahin, Nancy N.; Shaker, Olfat G.

doi:10.1371/journal.pone.0151901

Cited by 27 publications

(38 citation statements)

References 49 publications

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“…Even though the laboratory techniques for the investigation of SIRT-1 expression are not uniform and there is lack of research in this area, the data found in the Erechim-RS research are consistent with the information in the literature that suggests that the change in SIRT-1 expression is associated with breast cancer [32].…”

supporting

confidence: 78%

“…Epigenetic changes, including histone modifications, are critical for mammary carcinogenesis, but the association of expression of SIRT1 with the clinical features and prognosis of breast cancer have not yet been clarified [32]. Changes in the level of expression of sirtuin-1 (SIRT-1) and other molecules related to the signaling pathways of tumor cells have been investigated in many types of tumors, including breast cancer, but the association degree these expressions with the clinical prognosis of patients have not been definitively determined [25,33,34].…”

mentioning

confidence: 99%

“…A recent study investigated a specific population, evaluated the serum levels of SIRT-1 and changes in gene polymorphism coding for the SIRT-1 in patients with breast cancer and found a significant association between higher serum levels of SIRT-1 gene polymorphism and prognosis in breast cancer [32].…”

mentioning

confidence: 99%

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Expression Grade Sirtuin-1 (SIRT-1) in Tumor Tissue in Women with Breast Cancer: A New Biomarker Prognosis?

Sartori¹,

Schneider²

2017

JPP

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Breast cancer is a complex and heterogeneous disease with different clinical outcomes. The investigations of new biomolecular markers are essential to know the prognosis and improve the clinical management of patients. The SIRT-1 (sirtuin-1) is a histone deacetylase implicated in various epigenetic critical functions for the cells and the maintenance of genomic stability. The objective of this study is to investigate the grade of expression of the SIRT-1 (sirtuin-1) and the prognostic value in overall survival of women with breast cancer. Retrospective cohort of 457 women with breast cancer has been researched, undergoing treatment in Erechim-RS from 2003 to 2013 and followed until July 2015. The degree of SIRT-1 expression was investigated by immunohistochemistry in 123 patients (26.9%) of the cohort. The OS (overall survival) from specific disease and risk of death from breast cancer were estimated by Kaplan-Meier and Cox's proportional risks. The median age of 57.4 years cohort with OS of 79.6% in 5 years and 69.1% at 10 years, with follow-up time of 61.9 months are revealed in this work. The SIRT-1 overexpression was found in 6.5% of cases and characterized a subgroup of women with shorter survival and increased risk of death from breast cancer (HR = 2.66; 95% CI 1.03 to 6.86; p = 0.043) and adjusted by age (HR = 2.86; 95% CI 1.11 to 7.38; p = 0.030), histology (HR = 2.79; 95% CI 1.07 to 7.28; p = 0.036), lymph nodes (HR = 2.73; 95% CI 1.06 to 7.04; p = 0.037), Her-2 (HR = 2.82; 95% CI 1.07 to 7.44; p = 0.036); chemotherapy (HR = 2.90; 95% CI 1.11 to 7.60; p = 0.030) and radiotherapy (HR = 2.71; 95% CI 1.05 to 7.01; p = 0.040). In regressive multivariate models adjusted for age, status of axillary lymph nodes, Her-2 expression and proliferation index (Ki-67), the grade of expression of the SIRT-1 maintained association with poor prognosis. From the study, it can be concluded that the assessment of the SIRT-1 expression is an independent prognostic biomarker in breast cancer.

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supporting

confidence: 78%

mentioning

confidence: 99%

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Expression Grade Sirtuin-1 (SIRT-1) in Tumor Tissue in Women with Breast Cancer: A New Biomarker Prognosis?

Sartori¹,

Schneider²

2017

JPP

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“…This study shows that the rs3758391 associated with T2D, breast cancer, autoimmune thyroid disease, lupus erythematosus, and depression disorders, among others (Consiglio et al., ; Hathaway et al., ; Kovanen, Donner, & Partonen, ; Rizk et al., ; Sarumaru et al., ) and the rs1800470 associated with T2D, diabetic nephropathy, acute coronary syndrome, and asthma (Dragicevic, Petrovic‐Stanojevic, & Nikolic, ; Fragoso et al., ; Raina et al., ; Yang et al., ) are correlated with gene expression levels of SIRT1 and TGF‐β1 , respectively, in peripheral blood from adults. However, rs3758391, rs932658 (in LD with rs3758391), and rs1800470 are not located in DNA‐protein binding sites in the cell line BxPC‐3.…”

Section: Resultsmentioning

confidence: 72%

Type 2 diabetes–associated polymorphisms correlate with SIRT1 and TGF‐β1 gene expression

Ramirez

Hernández

Suárez-Sánchez

et al. 2019

Annals of Human Genetics

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The polymorphisms rs3758391 and rs1800470 located in SIRT1 and TGF-β1 have been associated with type 2 diabetes in different populations but its functional effect is not clear. In this study, we evaluated their effect on the expression of SIRT1 and TGF-β1 in peripheral blood as well as their participation in the formation of DNAprotein complexes in a pancreas-derived cell line. It has been described that SIRT1 and TGF-β1 participate in cell growth and regulation of production and secretion of insulin in the pancreas. Anthropometric and biochemical profiles of 127 adults were measured. Genotypes for rs3758391 and rs1800470 were determined using TaqMan assays. Expression analysis of SIRT1 and TGF-β1 were performed using real-time PCR. Gene expression of these genes increased 1.8 ± 0.6-and 1.3 ± 0.6-fold in patients carrying the TT genotype of rs3758391 and rs1800470 when compared to carriers of the CC genotype. Then, we tested whether these single-nucleotide polymorphisms (SNPs) (and rs932658, which is in linkage disequilibrium with rs3758391) are located in regulatory DNA-protein binding sites by electrophoretic mobility shift assays using nuclear extract from the pancreas-derived cell line BxPC-3. The electrophoretic mobility shift assay showed no binding of nuclear proteins to DNA. In conclusion, the genotypes of rs3758391 and rs1800470 are associated with modifications in the expression of the genes SIRT1 and TGF-β1, respectively, but none of the tested SNPs are located in regulatory DNA-protein binding sites.

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“…However, research has been performed on the association of SIRT1 polymorphisms and risk of other cancers. A recent study of Egyptian women found a positive association between SIRT1 rs12778366 TT genotype and the risk of breast cancer as compared to TC and CC genotypes, and carrying the rs12778366 TT genotype was associated with higher serum SIRT1 levels compared to TC and CC genotypes in breast cancer cases but not controls, while, overall, breast cancer cases had significantly higher serum SIRT1 levels than controls 42 . A study of pituitary adenoma patients found that the CC SIRT1 rs12778366 genotype was more common in patients compared to healthy controls, while the TC genotype was rarer in patients and no difference between the groups was found when considering the TT genotype 43 .…”

Section: Discussionmentioning

confidence: 95%

Investigation of sirtuin 1 polymorphisms in relation to the risk of colorectal cancer by molecular subtype

Hrzic

Simons

Schouten

et al. 2020

Sci Rep

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Sirtuin 1 (SIRT1), a histone deacetylase, is involved in maintenance of genetic stability, inflammation, immune response, metabolism (energy-sensing molecule) and colorectal tumorigenesis. We investigated SIRT1's specific role in colorectal tumorigenesis by studying SIRT1 polymorphisms in relation to colorectal cancer (CRC) risk by microsatellite instability (MSI) and CpG island methylator phenotype (CIMP) status. The Netherlands Cohort study (NLCS) was initiated in 1986 and includes 120,852 participants in a case-cohort design. CRC tumour samples were available for incident cases between 1989 and 1993. Toenail deoxyribonucleic acid (DNA) was used for genotyping of two SIRT1 tagging variants (rs10997870 and rs12778366). Excluding the first 2.3 years of follow-up, subcohort members and CRC cases with no toenail DNA available and those with low sample call rates, and CRC cases with no tumour DNA available left 3478 subcohort members and 533 CRC cases. Cox regression was utilised to estimate hazard ratios (HRs) for MSI and CIMP positive and negative tumours by SIRT1 genotypes. The results were that the rs12778366 TC/CC versus TT genotype was inversely associated with MSI CRC (HR = 0.41, 95% confidence interval: 0.20, 0.88), while no association was found with the risk of an MSS tumour (TC/CC versus TT carriers: HR = 1.13, 95% CI: 0.89, 1.44). No significant associations were found between other SIRT1 genotypes and CRC subtypes. In conclusion, the results suggest a role for SIRT1 polymorphisms in colorectal tumorigenesis, particularly MSI CRC. Colorectal cancer (CRC) heterogeneity depends in part on the genetic alterations of the tumorous tissue, which are thought to reflect different CRC aetiology 1-4. Several CRC pathways have been characterised, and these include the Microsatellite Instability (MSI) and the CpG Island Methylator Phenotype (CIMP) pathways 5. The underlying mechanism of MSI related CRC is a defect in deoxyribonucleic acid (DNA) mismatch repair function, driven by hypermethylation of the human MutL Homolog 1 (hMLH1) gene. In this sense, there is overlap between the CIMP and MSI pathways, since hMLH1 can be one of multiple methylation targets. MSI can be detected in about 15% of CRC cases, and is associated with a proximal location, older age, female sex and better disease outcome 6. The CIMP pathway is characterized by hypermethylation of multiple genetic loci that contain CpG islands, often located in regulatory regions of genes. This in turn abrogates transcription of the affected genes. CIMP positive tumours can be detected in approximately 20% of CRC cases, although percentages vary greatly between studies, as there is a lack of consensus on the definition of CIMP 7. CIMP tumours have similar characteristics as MSI tumours (proximal location, older age, female sex), with the exception that the majority of studies on clinical outcomes show evidence of a poor outcome, in contrast to MSI tumours 8,9. We have previously shown that body mass index (BMI) was more strongly and significantly associated w...

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Association between SIRT1 Gene Polymorphisms and Breast Cancer in Egyptians

Cited by 27 publications

References 49 publications

Expression Grade Sirtuin-1 (SIRT-1) in Tumor Tissue in Women with Breast Cancer: A New Biomarker Prognosis?

Expression Grade Sirtuin-1 (SIRT-1) in Tumor Tissue in Women with Breast Cancer: A New Biomarker Prognosis?

Type 2 diabetes–associated polymorphisms correlate with SIRT1 and TGF‐β1 gene expression

Investigation of sirtuin 1 polymorphisms in relation to the risk of colorectal cancer by molecular subtype

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