This review summarises proposed data-driven approaches to further refine diabetes subtypes using clinical phenotypes and/or genetic information (Diabetologia)
Diabetes News
Category: Genetics
Calcium-dependent transcriptional changes in human pancreatic islet cells reveal functional diversity in islet cell subtypes
Here we use our large-scale, multi-condition, single-cell dataset to show that human islets have cell-type-specific Ca2+-regulated gene expression profiles, some of them specific to subpopulations. In our dataset, we identify PCDH7 as a novel marker of beta cells having an increased number of Ca2+-regulated genes and enhanced insulin secretory function (Diabetologia)
Novel Subgroups of Type 2 Diabetes Display Different Epigenetic Patterns That Associate With Future Diabetic Complications
We identified differential epigenetic patterns between T2D subgroups that associated with future diabetic complications. These data support a reclassification of diabetes and the need for precision medicine in T2D subgroups (Diabetes Care)
Genome-wide meta-analysis and omics integration identifies novel genes associated with diabetic kidney disease
Altogether, the results point to novel genes contributing to the pathogenesis of DKD (Diabetologia)
Role of human organic cation transporter-1 (OCT-1/SLC22A1) in modulating the response to metformin in patients with type 2 diabetes
Taken together, our results corroborate the role of OCT-1 in the transport of metformin and also point at OCT1 genetic variations possibly affecting the transport of metformin into the cells and hence its subsequent action in responders and non-responders (BMC Endocrine Disorders)
Type 2 diabetes classification: a data-driven cluster study of the Danish Centre for Strategic Research in Type 2 Diabetes (DD2) cohort
Different HOMA2-based approaches did not classify patients with T2D in a consistent manner. The T2D classes characterized by high insulin resistance/hyperinsulinemia appeared most distinct (BMJ Open, Diabetes Research & Care)
Associations between deduced first islet specific autoantibody with sex, age at diagnosis and genetic risk factors in young children with type 1 diabetes
Strong differences in sex and age distributions as well as in genetic associations could be observed between GADA- and IAA-initiated autoimmunity (Pediatric Diabetes)
Clinical cardiovascular phenotypes and the pattern of future events in patients with type 2 diabetes
In T2D, a patient’s cardiovascular phenotype can help predict the pattern of future cardiovascular events (Clinical Research in Cardiology)
Prediabetes blunts DPP4 genetic control of postprandial glycaemia and insulin secretion
These results showed the DPP4 gene as a strong determinant of post-OGTT levels via glucose-sensing mechanisms that are abrogated in prediabetes (Diabetologia)
Epigenome-wide association study of incident type 2 diabetes: a meta-analysis of five prospective European cohorts
By combining results from five European cohorts, and thus significantly increasing study sample size, we identified 76 CpG sites associated with incident type 2 diabetes (Diabetologia)
Improvements in Awareness and Testing Have Led to a Threefold Increase Over 10 Years in the Identification of Monogenic Diabetes in the U.K.
Since 2009, referral rates and case diagnosis have increased threefold. This is likely to be the consequence of tNGS, GDN education, and use of the MODY calculator (Diabetes Care)
Recessive Genome-wide Meta-analysis Illuminates Genetic Architecture of Type 2 Diabetes
These results demonstrate that recessive models, when compared to GWAS using the additive approach, can identify novel loci, including large-effect variants with pathophysiological consequences relevant to type 2 diabetes (Diabetes)
Adiponectin gene polymorphisms and risk of type 2 diabetes: an updated evidence for meta-analysis
Collectively, our findings demonstrated a positive association between ADIPOQ + 276 G > T polymorphism with increased risk of T2D in male individuals with European ethnicity (Diabetology & Metabolic Syndrome)
Diabetes: Concepts of β-Cell Organ Dysfunction and Failure Would Lead to Earlier Diagnoses and Prevention
There is a potential to identify both T2D and T1D at stages well before the onset of currently recognized clinical disease (Diabetes)
What Is in the Field for Genetics and Epigenetics of Diabetic Neuropathy: The Role of MicroRNAs
In this scenario, the genetics of microRNAs is at a very preliminary stage. Notwithstanding, the study of genetics and epigenetics of miRNAs may well contribute to the identification of exploratory biomarkers of risk and pathogenetic mechanisms of diabetic neuropathy and to a comprehensive definition of susceptibility to specific pathogenetic mechanisms to favor a tailored mechanism-based treatment or prevention (Journal of Diabetes Research)
Incorporation of a genetics-based information module into standardized diabetes patient education
The educational module increased understanding of diabetes and increased motivation to adopt healthy behaviors (Primary Care Diabetes)
Association of genetic variants for plasma LRG1 with rapid decline in kidney function in patients with type 2 diabetes
We demonstrate that genetically influenced plasma LRG1 increases the risk of RDKF in T2D patients suggesting plasma LRG1 as a potential treatment target. However, further studies are warranted to elucidate underlying pathways to provide insight into DKD prevention (Journal of Clinical Endocrinology & Metabolism)
Increased frequency of β cells with abnormal NKX6.1 expression in type 2 diabetes but not in subjects with higher risk for type 2 diabetes
Our results suggested that NKX6.1 expression in β cells was changed in type 2 diabetic subjects, evidenced by significantly increased NKX6.1Nuc-Ins+ and NKX6.1cytIns− cells. This abnormality did not occur more frequently in subjects with a higher risk for T2DM, suggesting that β cell dedifferentiation might be secondary to the pathological changes in T2DM (BMC Endocrine Disorders)
Two decades since the fetal insulin hypothesis: what have we learned from genetics?
In summary, there is now ample evidence to support the idea that variants of certain genes which result in impaired pancreatic beta cell function and reduced insulin secretion contribute to both lower birthweight and higher type 2 diabetes risk in later life when inherited by the fetus (Diabetologia)
Genomic risk score provides predictive performance for type 2 diabetes in the UK biobank
The metaGRS significantly improves T2D prediction ability (Acta Diabetologica)
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