scholarly journals SLC5A2 Gene

2020 ◽  
Author(s):  
Keyword(s):  
Slc5a2 Gene

scholarly journals A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria

2016 ◽  
Vol 6 (1) ◽  
Author(s):  
Xiangzhong Zhao ◽  
Li Cui ◽  
Yanhua Lang ◽  
Ting liu ◽  
Jingru Lu ◽  
...  
Keyword(s):  
Branch Site ◽  
Familial Renal Glucosuria ◽  
Slc5a2 Gene ◽  
Recurrent Deletion

Clinical features of pediatric renal glucosuria cases due to SLC5A2 gene variants

2021 ◽  
Author(s):  
Sevil Dorum ◽  
Hakan Erdoğan ◽  
Adem Yasin Köksoy ◽  
Ali Topak ◽  
Özlem Görükmez
Keyword(s):  
Clinical Features ◽  
Gene Variants ◽  
Slc5a2 Gene

A novel heterozygous mutation in the SLC5A2 gene causing severe glycosuria, mild failure to thrive, and subclinical hypoglycemia

2021 ◽  
Author(s):  
Dimitrios T. Papadimitriou ◽  
Emmanouil Manolakos ◽  
Eleni Dermitzaki ◽  
Fotini Filiousi ◽  
Ioannis Papoulidis ◽  
...  
Keyword(s):  
Failure To Thrive ◽  
Heterozygous Mutation ◽  
Slc5a2 Gene

scholarly journals Influence of Familial Renal Glycosuria Due to Mutations in the SLC5A2 Gene on Changes in Glucose Tolerance over Time

PLoS ONE ◽  
2016 ◽  
Vol 11 (1) ◽  
pp. e0146114 ◽  
Author(s):  
Emilia Ottosson-Laakso ◽  
Tiinamaija Tuomi ◽  
Björn Forsén ◽  
Monika Gullström ◽  
Per-Henrik Groop ◽  
...  
Keyword(s):  
Glucose Tolerance ◽  
Renal Glycosuria ◽  
Slc5a2 Gene ◽  
Over Time

scholarly journals Novel Nonsense p.C522X Mutation in SLC5A2 Gene of a Turkish Family with Familial Renal Glucosuria: A Molecular Case Report

2010 ◽  
Vol 01 (02) ◽  
Author(s):  
Afig Berdeli ◽  
Sevgi Mir ◽  
Sinem Nalbantoglu ◽  
Fatma Mutlubas Ozsan ◽  
Sırrı F. Cam
Keyword(s):  
Case Report ◽  
Turkish Family ◽  
Familial Renal Glucosuria ◽  
Slc5a2 Gene

scholarly journals Six Exonic Variants in the SLC5A2 Gene Cause Exon Skipping in a Minigene Assay

2020 ◽  
Vol 11 ◽  
Author(s):  
Sai Wang ◽  
Yixiu Wang ◽  
Jinchao Wang ◽  
Zhiying Liu ◽  
Ruixiao Zhang ◽  
...  
Keyword(s):  
Exon Skipping ◽  
Slc5a2 Gene ◽  
Minigene Assay

scholarly journals Are SGLT2 polymorphisms linked to diabetes mellitus and cardiovascular disease? Prospective study and meta-analysis

2019 ◽  
Vol 39 (8) ◽  
Author(s):  
Heinz Drexel ◽  
Andreas Leiherer ◽  
Christoph H. Saely ◽  
Eva Maria Brandtner ◽  
Kathrin Geiger ◽  
...  
Keyword(s):  
Diabetes Mellitus ◽  
Type 2 Diabetes ◽  
Cardiovascular Disease ◽  
Cardiovascular Events ◽  
Meta Analysis ◽  
Atherosclerotic Cardiovascular Disease ◽  
Nucleotide Polymorphisms ◽  
Cardiovascular Morbidity And Mortality ◽  
Slc5a2 Gene

Abstract Inhibition of the sodium glucose co-transporter 2 (SGLT2) reduces cardiovascular morbidity, and mortality in patients with type 2 diabetes mellitus (T2DM) with atherosclerotic, cardiovascular disease. So far, a link between common genetic variations of the SGLT2 encoding gene SLC5A2 and glucose homeostasis as well as cardiovascular disease has not been established. The present study, therefore, aimed to investigate SLC5A2 single nucleotide polymorphisms (SNPs) in relation to type 2 diabetes and coronary artery disease (CAD) and prospectively the incidence of cardiovascular events. We genotyped the SLC5A2 tagging SNPs rs9934336, rs3813008, and rs3116150 in a total of 1684 high risk cardiovascular patients undergoing coronary angiography, including 400 patients with T2DM. Additionally, we performed a meta-analysis combining results from the present study and the literature. Variant rs9934336 was significantly associated with decreased HbA1c (P = 0.023). Further, rs9934336 was significantly inversely associated with the presence of T2DM in univariate (OR = 0.82 [0.68–0.99]; P = 0.037) as well as in multivariate analysis (OR = 0.79 [0.65–0.97]; P = 0.023). The association between rs9934336 and T2DM was confirmed in a meta-analysis including results from two previous observations which by themselves had failed to show a significant association of the polymorphism with T2DM (OR = 0.86 [0.78–0.95]; P = 0.004). Polymorphisms rs3813008 and rs3116150 were associated neither with glycemic parameters nor with T2DM. None of the SNPs tested was significantly associated with the baseline presence of CAD or the incidence of cardiovascular events. We conclude that genetic variation within the SLC5A2 gene locus is significantly related to the manifestation of T2DM.

scholarly journals Search for a Functional Genetic Variant Mimicking the Effect of SGLT2 Inhibitor Treatment

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1174
Author(s):  
Siqi Wang ◽  
M. Abdullah Said ◽  
Hilde E. Groot ◽  
Peter J. van der Most ◽  
Chris H. L. Thio ◽  
...  
Keyword(s):  
Sodium Excretion ◽  
Genetic Variant ◽  
Sglt2 Inhibitor ◽  
Diabetic Patients ◽  
Type 2 Diabetic Patients ◽  
Glucose Reabsorption ◽  
The Uk ◽  
Slc5a2 Gene ◽  
Renal Glucose Reabsorption ◽  
Flanking Regions

SGLT2 inhibitors (SGLT2i) block renal glucose reabsorption. Due to the unexpected beneficial observations in type 2 diabetic patients potentially related to increased natriuresis, SGLT2i are also studied for heart failure treatment. This study aimed to identify genetic variants mimicking SGLT2i to further our understanding of the potential underlying biological mechanisms. Using the UK Biobank resource, we identified 264 SNPs located in the SLC5A2 gene or within 25kb of the 5′ and 3′ flanking regions, of which 91 had minor allele frequencies >1%. Twenty-seven SNPs were associated with glycated hemoglobin (HbA1c) after Bonferroni correction in participants without diabetes, while none of the SNPs were associated with sodium excretion. We investigated whether these variants had a directionally consistent effect on sodium excretion, HbA1c levels, and SLC5A2 expression. None of the variants met these criteria. Likewise, we identified no common missense variants, and although four SNPs could be defined as 5′ or 3′ prime untranslated region variants of which rs45612043 was predicted to be deleterious, these SNPs were not annotated to SLC5A2. In conclusion, no genetic variant was found mimicking SGLT2i based on their location near SLC5A2 and their association with sodium excretion or HbA1c and SLC5A2 expression or function.

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