Acta Diabetologica最新文献

Aims: Our study aimed to evaluate the association between the erythropoietin gene rs1617640 polymorphism and diabetic retinopathy (DR) in diabetes patients.

Methods: In this preliminary retrospective study the genotyping was performed on 860 DNA samples from Caucasian patients with type 2 diabetes mellitus (T2DM). For analyzing the effect of the polymorphism, patients were assigned into three phenotypic subgroups: non-DR (without retinopathy), NPDR (with non-proliferative diabetic retinopathy) and PDR (with proliferative diabetic retinopathy). The rs1617640 polymorphism was analyzed using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) and direct DNA sequencing procedures.

Results: A statistically significant difference in the polymorphism distribution was observed between T2DM patients with DR (both NPDR and PDR) and those without DR. The minor G allele was associated with the increased risk of DR. In the NPDR subgroup subjects carrying the G allele had 1.53-fold higher risk of developing retinopathy. Similarly, in the PDR subgroup patients carrying the G allele showed almost twofold increased risk of PDR in a dominant model of inheritance.

Conclusion: Our results demonstrate that in T2DM patients the EPO rs1617460 polymorphism is associated with significantly increased risk of developing DR. This finding can provide a new insight into the role of EPO gene in the pathophysiology of microvascular complications of diabetes.

Aims: To assess the effect of a 1-year supervised exercise training program on long-term mortality in people with type 2 diabetes.

Methods: This is a post hoc analysis of the Italian Diabetes and Exercise Study randomized clinical trial, which enrolled 606 physically inactive and sedentary individuals with type 2 diabetes from October 2005 to March 2006. Participants were randomized 1:1 to either an exercise group (EXE) receiving a twice-weekly, progressive, supervised aerobic and resistance exercise training plus a physical activity (PA) counseling or a control group (CON) receiving counseling alone for one year. The vital status of participants was verified on 30 June 2024 by interrogating the Italian Health Card database.

Results: A similar number of EXE and CON participants died over a mean 16.2-year follow-up (88 vs. 95, p = 0.536). Likewise, no between-group differences were detected in death rates (unadjusted, 17.62 [95% confidence interval, 14.30-21.71] vs. 19.59 [16.02-23.96] per 1,000 patient-years, p = 0.483; and age- and sex-adjusted, 16.46 [12.81-21.13] vs. 17.93 [13.92-23.09], p = 0.563). Kaplan-Meier estimates (Log Rank = 0.647, p = 0.421) and mortality risk (unadjusted, hazard ratio, 0.888 [95% confidence interval, 0.664-1.187], p = 0.442; and age- and sex-adjusted, 0.922 [0.689-1.233], p = 0.584). A significant relation with mortality was observed for baseline maximal oxygen uptake (VO_2max), but not lower body muscle strength, regardless of study arm, whereas no association was detected for changes from baseline in leisure-time PA, total PA volume, VO_2max, and lower body muscle strength.

Conclusions: In people with type 2 diabetes, a one-year supervised exercise training program had no significant effect on long-term mortality.

Trial registration: isrctn.com; ISRCTN-04252749; URL https://www.isrctn.com/ISRCTN04252749 .

Despite years of experience from scientific teams around the world, diagnosing the cause of monogenic diabetes (MD) remains a challenge, mainly due to the proper definition of the patients' phenotype and the multitude of molecular causes. Our goal was to present the results of the efforts to make the molecular diagnosis of patients with suspected MD as precise as possible from the last few years of our Rare Disease Center for Children and Adolescents and Diabetogenetics using the NGS (Next Generation Sequencing) method. We used a targeted NGS panel and whole exome sequencing (WES) data. The study group consisted of 644 individuals, including 501 patients who were referred from 17 Polish diabetes centers with suspected MD and who were diagnosed between January 2020 and December 2023, as well as their 143 family members. The median age for the patients was 14 years (IQR: 9-18). Overall, MD was confirmed by identifying the causative genetic variant in 43.3% of probands. We identified causative variants in 16 genes, most commonly in GCK and HNF1A (85.7%), mainly of the SNV (single nucleotide variant) type, and CNV variants in the GCK and HNF1B genes (1.4%). Using WES data, we could also identify the 17q12 syndrome in one patient. The subgroups of MD and unresolved patients differed in regard to age of clinical and genetic diagnosis (p = 0.00714 and p = 0.00004), birth weight (p = 0.00255), BMI (p = 0.00075), and HbA1c (p = 0.00001). Analysis of WES data (44%) and targeted gene panels (43%) provided similar results in successful diagnosis of MD. However, WES data offer a more complete molecular picture for the diagnosis of MD, especially for large rearrangements, and allow for kinship and ethnicity analysis, which can expand the scope of the diagnosis.