Association between functional<i>SIRT1</i>polymorphisms and the clinical characteristics of patients with autoimmune thyroid disease

Sarumaru, Mika; Watanabe, Mikio; Inoue, Naohisa; Hisamoto, Yuko; Emi, Mitsuru; Arakawa, Yuya; Hidaka, Yoh; Iwatani, Yoshinori

doi:10.3109/08916934.2015.1134506

Cited by 23 publications

(20 citation statements)

References 39 publications

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“…Sirtuin1 (SIRT1) is a class 3 nicotinamide adenine dinucleotide-dependent HDAC, which is intensively associated with immune response and autoimmune diseases (114–116). A case–control study by Sarumaru et al reported that rs3758391 and rs4746720 in the SIRT1 gene were associated with higher levels of thyroid autoantibodies in AITD patients (117). …”

Section: Epigenetics In Aitdmentioning

confidence: 99%

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

et al. 2017

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Autoimmune thyroid diseases (AITD) are a group of both B cell- and T cell-mediated organ-specific autoimmune diseases. Graves’ disease and Hashimoto thyroiditis are the two main clinical presentations of AITD. Both genetic and environmental factors have important roles in the development of AITD. Epigenetics have been considered to exert key roles in integrating those genetic and environmental factors, and epigenetic modifications caused by environmental factors may drive genetically susceptibility individuals to develop AITD. Recent studies on the epigenetics of AITD have provided some novel insights into the pathogenesis of AITD. The aim of this review is to provide an overview of recent advances in the epigenetic mechanisms of AITD, such as DNA methylation, histone modifications, and non-coding RNAs. This review highlights the key roles of epigenetics in the pathogenesis of AITD and potential clinical utility. However, the epigenetic roles in AITD are still not fully elucidated, and more researches are needed to provide further deeper insights into the roles of epigenetics in AITD and to uncover new therapeutic targets. Although there are many studies assessing the epigenetic modifications in AITD patients, the clinical utility of epigenetics in AITD remains poorly defined. More studies are needed to identify the underlying epigenetic modifications that can contribute to accurate diagnosis of AITD, adequate choice of treatment approach, and precise prediction of treatment outcomes.

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Section: Epigenetics In Aitdmentioning

confidence: 99%

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

et al. 2017

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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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“…[ 35 ] These 2 SNPs have been explored in various diseases, such as pituitary adenoma, autoimmune thyroid disease, and breast cancer. [ 25 , 36 , 37 ] Acute coronary syndrome is protected by SIRT1 gene. [ 33 ] Breast cancer susceptibility was correlated with rs12778366 and rs3758391 polymorphisms.…”

Section: Discussionmentioning

confidence: 99%

Influence of SIRT1 polymorphisms for diabetic foot susceptibility and severity

Peng¹,

Zhang²,

Tang³

et al. 2018

Medicine

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The present study aimed to explore the influence of sirtuin 1 (SIRT1) polymorphisms (rs12778366 and rs3758391) on diabetic foot (DF) susceptibility and severity in patients with type 2 diabetes mellitus (T2DM).This case–control study recruited 142 patients with DF, 148 patients with T2DM, and 148 healthy controls. SIRT1 gene polymorphisms were sequenced by polymerase chain reaction (PCR) and direct sequencing method. The relative expression of SIRT1 mRNA was estimated using quantitative real-time PCR (qRT-PCR) assay. Odds ratio (OR) with 95% confidence interval (95% CI) were used to represent the association of SIRT1 polymorphisms with DF susceptibility and severity. The results were adjusted using logistic regression analysis.C allele of rs12778366 polymorphism was significantly correlated with reduced DF susceptibility which deriving from healthy controls (adjusted OR = 0.364, 95% CI = 0.158–0.835) so was patients with T2DM (P = .047, OR = 0.591, 95%CI = 0.349–0.998), but the results became nonsignificant adjusted by clinical features (adjusted OR = 0.654, 95% CI = 0.391–1.094). We failed to find any significant association between rs3758391 polymorphisms and T2DM, DF susceptibility. No significant association has been discovered between SIRT1 polymorphisms and DF severity or characteristics. In addition, compared to healthy control and T2DM cases, patients with DF exhibited significant downregulation of SIRT1. The 2 studied polymorphisms had no effects on its gene expression (P > .05 for all).SIRT1 rs12778366 polymorphism C allele might act as a protective factor for DF onset.

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Association between functionalSIRT1polymorphisms and the clinical characteristics of patients with autoimmune thyroid disease

Cited by 23 publications

References 39 publications

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

The Emerging Role of Epigenetics in Autoimmune Thyroid Diseases

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

Influence of SIRT1 polymorphisms for diabetic foot susceptibility and severity

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