Screening of Genetic Factor in the Interaction Between Periodontitis and Metabolic Traits Using Candidate Gene Association Study (CGAS)

Moon, Kyung-Hui

doi:10.1007/s10528-018-9899-9

Cited by 8 publications

(5 citation statements)

References 29 publications

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“…The most relevant finding was the reduction of NHE11 mRNA expression levels in the left ventricular tissue of rats treated with empagliflozin. Currently, there is a lack of knowledge about the function of this molecule [ 11 ]; however, in the context of periodontitis, a chronic inflammatory disease, the association between the SLC9C2 gene and systolic and diastolic blood pressure has been described [ 21 ].…”

Section: Discussionmentioning

confidence: 99%

Cardiac Sodium/Hydrogen Exchanger (NHE11) as a Novel Potential Target for SGLT2i in Heart Failure: A Preliminary Study

et al. 2022

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Despite the reduction of cardiovascular events, including the risk of death, associated with sodium/glucose cotransporter 2 inhibitors (SGLT2i), their basic action remains unclear. Sodium/hydrogen exchanger (NHE) has been proposed as the mechanism of action, but there are controversies related to its function and expression in heart failure (HF). We hypothesized that sodium transported-related molecules could be altered in HF and modulated through SGLT2i. Transcriptome alterations in genes involved in sodium transport in HF were investigated in human heart samples by RNA-sequencing. NHE11 and NHE1 protein levels were determined by ELISA; the effect of empagliflozin on NHE11 and NHE1 mRNA levels in rats’ left ventricular tissues was studied through RT-qPCR. We highlighted the overexpression of SLC9C2 and SCL9A1 sodium transport genes and the increase of the proteins that encode them (NHE11 and NHE1). NHE11 levels were correlated with left ventricular diameters, so we studied the effect of SGLT2i on its expression, observing that NHE11 mRNA levels were reduced in treated rats. We showed alterations in several sodium transports and reinforced the importance of these channels in HF progression. We described upregulation in NHE11 and NHE1, but only NHE11 correlated with human cardiac dysfunction, and its levels were reduced after treatment with empagliflozin. These results propose NHE11 as a potential target of SGLT2i in cardiac tissue.

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Section: Discussionmentioning

confidence: 99%

Cardiac Sodium/Hydrogen Exchanger (NHE11) as a Novel Potential Target for SGLT2i in Heart Failure: A Preliminary Study

et al. 2022

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“…Nervous system Translocation Epilepsy, mental retardation Bhalla et al, 2004 Deletion Autism spectrum disorder, intellectual disability, verbal dyspraxia, Tourette-like Syndrome, epilepsy, developmental hemiparesis, nodular heterotopia Martin et al, 2007;Davis et al, 2012;Milone et al, 2016;Murgai et al, 2018 Duplication Schizophrenia and related psychotic disorders Melhem et al, 2011 Copy number variation Autism spectrum disorder, epilepsy, abnormalities in physical and motor development, attention-deficit/hyperactivity disorder, early-onset familial Alzheimer's disease, arachnoid cysts Sebat et al, 2007;Aarhus et al, 2010;Elia et al, 2010;Hooli et al, 2014 SNP Autism spectrum disorder, Alzheimer's Disease, amyotrophic lateral sclerosis, bipolar schizo-affective disorder, restless leg syndrome, aggressive behavior, refractive error and myopia Martin et al, 2007;Cronin et al, 2008;Hamshere et al, 2009;Winkelmann et al, 2011;Verhoeven et al, 2013;Kong et al, 2018;Fernàndez-Castillo et al, 2020 Mis-splicing Autism spectrum disorder Voineagu et al, 2011 Musculoskeletal system SNP Osteoarthritis, gout, periodontitis Zhai et al, 2009;Hämäläinen et al, 2014;Lai et al, 2012;Moon, 2019 Mis-splicing Myotonic dystrophy, facioscapulohumeral muscular dystrophy Cheung et al, 2008;Beroukhim et al, 2010;Hu et al, 2013;Klorin et al, 2013;Linnebacher et al, 2013 SNP Breast cancer, lymphoma, non-small-cell lung cancer, gastric cancer Akers et al, 2008;Gold et al, 2008;Huang et al, 2009;Tada et al, 2010 Mis-splicing Glioblastoma Cheung et al, 200...…”

Section: Cause Of Mis-expression Disease Association Referencementioning

confidence: 99%

“…Not only was gout, based on genetic and clinical evidence, found to show a significant association with type 2 diabetes mellitus, and vice versa, but also share common genetic markers, identified by the GWAS (Lai et al, 2012). Moreover, a recent candidate gene association study (CGAS) in the Korean population, to confirm common genetic factors between periodontitis and metabolic traits, such as obesity, found that among the analyzed SNPs, 2649 SNPs in five genes were statistically significant, and 2592 of these mapped to RBFOX1 (Moon, 2019).…”

Section: Human Disease Associations Of Rbfox Proteinsmentioning

confidence: 99%

To RNA‐binding and beyond: Emerging facets of the role of Rbfox proteins in development and disease

Mukherjee,

Nongthomba

2023

WIREs RNA

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The RNA‐binding Fox‐1 homologue (Rbfox) proteins represent an ancient family of splicing factors, conserved through evolution. All members share an RNA recognition motif (RRM), and a particular affinity for the GCAUG signature in target RNA molecules. The role of Rbfox, as a splice factor, deciding the tissue‐specific inclusion/exclusion of an exon, depending on its binding position on the flanking introns, is well known. Rbfox often acts in concert with other splicing factors, and forms splicing regulatory networks. Apart from this canonical role, recent studies show that Rbfox can also function as a transcription co‐factor, and affects mRNA stability and translation. The repertoire of Rbfox targets is vast, including genes involved in the development of tissue lineages, such as neurogenesis, myogenesis, and erythropoeiesis, and molecular processes, including cytoskeletal dynamics, and calcium handling. A second layer of complexity is added by the fact that Rbfox expression itself is regulated by multiple mechanisms, and, in vertebrates, exhibits tissue‐specific expression. The optimum dosage of Rbfox is critical, and its misexpression is etiological to various disease conditions. In this review, we discuss the contextual roles played by Rbfox as a tissue‐specific regulator for the expression of many important genes with diverse functions, through the lens of the emerging data which highlights its involvement in many human diseases. Furthermore, we explore the mechanistic details provided by studies in model organisms, with emphasis on the work with Drosophila.This article is categorized under: RNA Processing > Splicing Mechanisms RNA Interactions with Proteins and Other Molecules > Protein‐RNA Interactions: Functional Implications RNA Turnover and Surveillance > Regulation of RNA Stability RNA Processing > Splicing Regulation/Alternative Splicing

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“…Many studies conferred that SNP markers could be used for the breeding of livestock, of which the fundamental goal is to use these mutations as useful markers for the prediction of superior animals concerning the desired production traits ( Xiang et al, 2018 ; Bi et al, 2021 ; Gautason et al, 2021 ). Nowadays, the candidate gene association study (CGAS) ( Moon, 2019 ) has been widely used to identify genetic variants of candidate genes and their potential association with certain genotype traits ( Pryce et al, 2011 ; Locke et al, 2015 ). The success of CGAS largely depends on the choice of candidate genes to be studied, of which the biological function should be relevant to the studied traits ( Wilkening et al, 2009 ; Gebreselassie et al, 2020 ).…”

Section: Introductionmentioning

confidence: 99%

Five SNPs Within the FGF5 Gene Significantly Affect Both Wool Traits and Growth Performance in Fine-Wool Sheep (Ovis aries)

Zhao

et al. 2021

Front. Genet.

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Fibroblast growth factor 5 (FGF5) gene, a member of fibroblast growth factor superfamily, plays significant roles in the regulation of the hair growth cycle during the development of mammalian hair follicles as well as the skeletal muscle development. In this study, DNA sequencing was used to scan the putative SNPs within the full-length of FGF5 gene, and SNPscan high-throughput technique was applied in the individual genotyping of 604 crossbred sheep. 10 SNPs were identified within FGF5 gene while five of them located in intron 1 could be genotyped, namely SNP1 (g. 105914953 G > A), SNP2 (g. 105922232 T > C), SNP3 (g. 105922244 A > G), SNP4 (g. 105922334 A > T) and SNP5 (g. 105922340 G > T). All these SNPs were in accord with the Hardy-Weinberg equilibrium (P > 0.05), and displayed the moderate polymorphism with PIC values ranging from 0.302 to 0.374. Thereafter, the correlation analysis between each SNP locus and economic traits including wool length, greasy wool weight and growth performance of sheep was systematically implemented. In our results, SNP1, SNP3, SNP4 and SNP5 were significantly associated with wool length, greasy wool weight and growth traits of SG sheep (P < 0.05); SNP1, SNP2, SNP3, and SNP4 were significantly correlated with wool length and growth traits of SSG sheep (P < 0.05). Meanwhile, our study revealed a strong linkage disequilibrium (LD) relationship among these SNPs (r2 > 0.33), except for SNP3 and SNP4 sites (r2 = 0.30). Combination genotype analysis showed that combination genotypes were significantly associated with mean fiber diameter of SG (P < 0.05), and body weight trait of SSG (P < 0.01). The above findings suggested that these SNP loci might affect economic traits synergistically and could be regarded as potential molecular markers for improving both wool production and growth performance of fine-wool sheep, which lay a molecular foundation for the breeding of fine dual-purpose sheep thereby accelerating the pace of sheep breeding.

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Screening of Genetic Factor in the Interaction Between Periodontitis and Metabolic Traits Using Candidate Gene Association Study (CGAS)

Cited by 8 publications

References 29 publications

Cardiac Sodium/Hydrogen Exchanger (NHE11) as a Novel Potential Target for SGLT2i in Heart Failure: A Preliminary Study

Cardiac Sodium/Hydrogen Exchanger (NHE11) as a Novel Potential Target for SGLT2i in Heart Failure: A Preliminary Study

To RNA‐binding and beyond: Emerging facets of the role of Rbfox proteins in development and disease

Five SNPs Within the FGF5 Gene Significantly Affect Both Wool Traits and Growth Performance in Fine-Wool Sheep (Ovis aries)

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