Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications

Rasheed, Maha; Kantoush, Nagwa; EL-Ghaffar, Nagwa Abd; Farouk, Hebatallah; Kamel, Solaf; Ibrahim, Alshaymaa A.; Shalaby, A. M.; Mahmoud, Eman; Raslan, Hala M.; Saleh, Omneya M.

doi:10.1177/2042018817708910

Cited by 24 publications

(24 citation statements)

References 52 publications

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“…including migraine, sickle cell disease, Behcet's disease, and branch retinal artery occlusion (66)(67)(68)(69)(70)(71). Among the identified genes in this study, several genes including MTHFR, NOS3, SLC44A2, and NOTCH2 are associated with prothrombotic risk factors and various vascular disorders (72)(73)(74)(75). The MTHFR encodes methylenetetrahydrofolate reductase which catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocystein remethylation to methionine (29).…”

Section: Discussionmentioning

confidence: 96%

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population

Shin

Kim

et al. 2020

Front. Neurol.

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Objectives: The cause of Meniere's disease (MD) is unclear but likely involves genetic and environmental factors. The aim of this study was to investigate the genetic basis underlying MD by screening putative candidate genes for MD. Methods: Sixty-eight patients who met the diagnostic criteria for MD of the Barany Society were included. We performed targeted gene sequencing using next generation sequencing (NGS) panel composed of 45 MD-associated genes. We identified the rare variants causing non-synonymous amino acid changes, stop codons, and insertions/deletions in the coding regions, and excluded the common variants with minor allele frequency >0.01 in public databases. The pathogenicity of the identified variants was analyzed by various predictive tools and protein structural modeling. Results: The average read depth for the targeted regions was 1446.3-fold, and 99.4% of the targeted regions were covered by 20 or more reads, achieving the high quality of the sequencing. After variant filtering, annotation, and interpretation, we identified a total of 15 rare heterozygous variants in 12 (17.6%) sporadic patients. Among them, four variants were detected in familial MD genes (DTNA, FAM136A, DPT), and the remaining 11 in MD-associated genes (PTPN22, NFKB1, CXCL10, TLR2, MTHFR, SLC44A2, NOS3, NOTCH2). Three patients had the variants in two or more genes. All variants were not detected in our healthy controls (n = 100). No significant differences were observed between patients with and without a genetic variant in terms of sex, mean age of onset, bilaterality, the type of MD, and hearing threshold at diagnosis. Conclusions: Our study identified rare variants of putative candidate genes in some of MD patients. The genes were related to the formation of inner ear structures, the immune-associated process, or systemic hemostasis derangement, suggesting the multiple genetic predispositions in the development of MD.

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Section: Discussionmentioning

confidence: 96%

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population

Shin

Kim

et al. 2020

Front. Neurol.

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“…This gene is highly expressed in adipose and liver tissues, which can affect the regulation of gluconeogenesis, insulin sensitivity, lipid metabolism, and inflammatory reactions [ 8 ]. There is also a correlation between JAZF1 polymorphisms and the development of T2D [ 9 ]. However, the mechanism underlying this relationship is unclear.…”

Section: Introductionmentioning

confidence: 99%

Effects of Adenovirus-Mediated Overexpression of JAZF1 on Chronic Inflammation: An In Vitro and In Vivo Study

Meng

Hao

et al. 2020

Med Sci Monit Basic Res

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Background Insulin sensitivity and inflammation can be affected by juxtaposition with another zinc finger gene 1 ( JAZF1 ), but its precise role in chronic inflammation is unclear. In this study, JAZF1 -overexpression adenovirus plasmids were transfected into macrophages, CD4 + T cells, and C57BL/6J mice to assess the role of JAZF1 in chronic inflammation. Material/Methods JAZF1 was cloned into an adenovirus skeleton plasmid and transfected in HEK293 cells to package and enrich the virus particles. In vitro , the JAZF1 overexpression adenovirus vector (PAD-JAZF1) was cultured with peritoneal macrophages and peripheral blood CD4 + T cells of C57BL/6J mice, and samples were evaluated using flow cytometry. In vivo , PAD-JAZF1 was introduced into C57BL/6J mice, and livers were collected to evaluate factors related to inflammation by hematoxylin & eosin and immunohistochemical staining. Results In vitro , PAD-JAZF1 decreased total macrophages, CD11c + macrophages, and the secretion of proinflammatory cytokines, but increased CD206 + macrophages. It also decreased total CD4 + T cells, active T cells, memory T cells, and the secretion of IL-6, IL-10, and IFN-γ, but increased Treg cells and restrictive T cells. In vivo , compared to those in the control group transfected with the adenovirus skeleton vector, mice transfected with the PAD-JAZF1 recombinant adenovirus had fewer CD11c + ATMs and CD4 + T cells, lower levels of TNF-α and IL-6, and higher IL-10 concentrations in the liver. Conclusions These findings indicate that JAZF1 limits chronic inflammation by reducing macrophage and CD4 + T cell populations, altering subtype differentiation, and regulating the secretion of immune-related factors.

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“…[ 3 ] Studies have shown that vitamin D can reduce inflammation and autoimmune response, promote insulin synthesis and secretion, and play a regulatory role in the occurrence and development of diabetes and its complications. [ 4 ] Vitamin D deficiency has been shown to be an important risk factor for limited secretion of islet β cells and insulin resistance. [ 5 ] Based on the analysis of relevant data from 110 countries, The International Diabetes Federation predicts that the number of global diabetes patients will reach 592 million in 2035.…”

Section: Introductionmentioning

confidence: 99%

Vitamin D supplementation in the treatment of type 2 diabetic microangiopathy

et al. 2020

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Background: The number of people with diabetes is growing exponentially.Human studies have shown that vitamin D supplementation is beneficial for type 2 diabetic microangiopathy. However, owing to the low quality, small sample size, and methodological heterogeneity of these studies, this conclusion is not convincing. Consequently, in order to determine whether vitamin D supplementation is effective and safe in type 2 diabetic microangiopathy, it is necessary to conduct a meta-analysis of high-quality clinical trials. Methods: We will search each database from the built-in until March 2020. The English literature mainly searches Cochrane Library, PubMed, EMBASE, and Web of Science, while the Chinese literature comes from CNKI, CBM, VIP, and Wangfang database. Simultaneously we will retrieval clinical registration tests and grey literatures. In this study, only the clinical randomized controlled trials were selected to evaluate the efficacy and safety of vitamin D in the treatment of type 2 diabetic microangiopathy. The two researchers independently conducted literature selection, data extraction and quality assessment. Statistical heterogeneity among studies will be evaluated using the Cochran Q test (x 2 ) and the I 2 statistical value. We will utilize the Review Manage software V5.3.0 (The Nordic Cochrane Center, The Cochrane Collaboration, 2014, Copenhagen, Denmark) to statistically analyze all data. Ethics and dissemination: Ethics and dissemination: This study is a systematic review of vitamin D supplementation as a treatment of type 2 diabetic microangiopathy. Results: This study will provide high-quality synthesis of effectiveness and safety of vitamin D supplementation for type 2 diabetic microangiopathy. Conclusion: This systematic review aims to provide new options for vitamin D treatment of type 2 diabetic microangiopathy in terms of its efficacy and safety. Registration number: LNPLASY202050055

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Expression of JAZF1, ABCC8, KCNJ11and Notch2 genes and vitamin D receptor polymorphisms in type 2 diabetes, and their association with microvascular complications

Cited by 24 publications

References 52 publications

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population

Rare Variants of Putative Candidate Genes Associated With Sporadic Meniere's Disease in East Asian Population

Effects of Adenovirus-Mediated Overexpression of JAZF1 on Chronic Inflammation: An In Vitro and In Vivo Study

Vitamin D supplementation in the treatment of type 2 diabetic microangiopathy

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