Genetics of Type 2 Diabetes: Past, Present, and Future

Laakso, Markku; Silva, Lilian Fernandes

doi:10.3390/nu14153201

Cited by 35 publications

(29 citation statements)

References 92 publications

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“…However, the large number of currently known variants explains less than 20% of the cases of diabetes, leaving unanswered questions as to how to explain the remaining 80%, especially with recent studies suggesting data-driven subtypes of newly diagnosed T2DM that require different treatments and having different risks of complications. 47 Furthermore, where do genes stop and epigenetics takes over? What are the differences in gene expressions in Indians compared to Pima Indians, Europeans, and other races/ethnicities?…”

Section: A Strategic Research Framework For Diabetes In Indiamentioning

confidence: 99%

A Strategic Research Framework for Defeating Diabetes in India: A 21st-Century Agenda

et al. 2023

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Indian people are at high risk for type 2 diabetes (T2DM) even at younger ages and lower body weights. Already 74 million people in India have the disease, and the proportion of those with T2DM is increasing across all strata of society. Unique aspects, related to lower insulin secretion or function, and higher hepatic fat deposition, accompanied by the rise in overweight (related to lifestyle changes) may all be responsible for this unrelenting epidemic of T2DM. Yet, research to understand the causes, pathophysiology, phenotypes, prevention, treatment, and healthcare delivery of T2DM in India seriously lags behind. There are major opportunities for scientific discovery and technological innovation, which if tapped can generate solutions for T2DM relevant to the country’s context and make leading contributions to global science. We analyze the situation of T2DM in India, and present a four-pillar (etiology, precision medicine, implementation research, and health policy) strategic research framework to tackle the challenge. We offer key research questions for each pillar, and identify infrastructure needs. India offers a fertile environment for shifting the paradigm from imprecise late-stage diabetes treatment toward early-stage precision prevention and care. Investing in and leveraging academic and technological infrastructures, across the disciplines of science, engineering, and medicine, can accelerate progress toward a diabetes-free nation.

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Section: A Strategic Research Framework For Diabetes In Indiamentioning

confidence: 99%

A Strategic Research Framework for Defeating Diabetes in India: A 21st-Century Agenda

et al. 2023

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“…In terms of disease pathophysiology, a breakdown in the feedback loops between insulin action and secretion results in abnormally high blood glucose levels. β-cell failure causes a decrease in insulin secretion, which is essential for maintaining consistent blood sugar levels, although insulin resistance also plays a role, leading to increased glucose synthesis in the liver and diminished glucose uptake by adipose tissue [ 10 ]. The gradual loss of β-cell mass and function is an early and observable aspect of the natural pathway of diabetes [ 11 ].…”

Section: Introductionmentioning

confidence: 99%

Saudi Community-Based Screening Study on Genetic Variants in β-Cell Dysfunction and Its Role in Women with Gestational Diabetes Mellitus

Alshammary

Al-Hakeem

Khan

2023

Genes

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Background: Diabetes (hyperglycemia) is defined as a multifactorial metabolic disorder in which insulin resistance and defects in pancreatic β-cell dysfunction are two major pathophysiologic abnormalities that underpin towards gestational diabetes mellitus (GDM). TCF7L2, KCNQ1, and KCNJ11 genes are connected to the mechanism of β-cell dysfunction. The purpose of this study was to investigate the genes associated with β-cell dysfunction and their genetic roles in the rs7903146, rs2237892, and rs5219 variants in Saudi women diagnosed with type 2 diabetes mellitus and GDM. Materials and Methods: In this case-control study, 100 women with GDM and 100 healthy volunteers (non-GDM) were recruited. Genotyping was performed using polymerase chain reaction (PCR), followed by restriction fragment length analysis. Validation was performed using Sanger sequencing. Statistical analyses were performed using multiple software packages. Results: Clinical studies showed a β-cell dysfunction positive association in women with GDM when compared to non-GDM women (p < 0.05). Both rs7903146 (CT vs. CC: OR-2.12 [95%CI: 1.13–3.96]; p = 0.01 & T vs. C: (OR-2.03 [95%CI: 1.32–3.11]; p = 0.001) and rs5219 SNPs (AG vs. AA: OR-3.37 [95%CI: 1.63–6.95]; p = 0.0006 & G vs. A: OR-3.03 [95%CI: 1.66–5.52]; p = 0.0001) showed a positive association with genotype and allele frequencies in women with GDM. ANOVA analysis confirmed that weight (p = 0.02), BMI (p = 0.01), and PPBG (p = 0.003) were associated with rs7903146 and BMI (p = 0.03) was associated with rs2237892 SNPs. Conclusions: This study confirms that the SNPs rs7903146 (TCF7L2) and rs5219 (KCNJ11) are strongly associated with GDM in the Saudi population. Future studies should address the limitations of this study.

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“…Rates of chronic diseases have soared in recent decades, affecting several million adults worldwide (Laakso & Fernandes Silva, 2022). For example, estimates in numerous studies indicate a substantial increase in diabetes cases, particularly in developing countries (Alotaibi et al, 2017; Alramadan et al, 2018; Ghabban et al, 2020; Mansy et al, 2022).…”

Section: Introductionmentioning

confidence: 99%

The psychometric properties of the Diabetes Self‐Efficacy Scale in Saudis with type 2 diabetes

Kerari

2023

Nursing Open

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AimTo assess the psychometric properties of the Arabic version of the Diabetes Self‐Efficacy Scale (A‐DSES).DesignThis study used a cross‐sectional design.MethodsThis study recruited 154 Saudi adults with type 2 diabetes at two primary healthcare centres in Riyadh, Saudi Arabia. Its instruments were the Diabetes Self‐Efficacy Scale and the Diabetes Self‐Management Questionnaire. The psychometric properties of the A‐DSES were assessed for reliability, including internal consistency and validity using exploratory factor analysis, confirmatory factor analysis and criterion validity.ResultsThe item‐total correlation coefficients were >0.30 for all items, ranging from 0.46 to 0.70. The Cronbach's alpha for internal consistency was 0.86. One factor was extracted from the exploratory factor analysis (self‐efficacy for diabetes self‐management), and the one‐factor model showed an acceptable fit to the data in the confirmatory factor analysis. Diabetes self‐efficacy levels were positively correlated with diabetes self‐management skills (r = 0.40, p < 0.001), indicating criterion validity.ConclusionsThe results indicate that the A‐DSES is a reliable and valid instrument for assessing self‐efficacy related to diabetes self‐management.Relevance to Clinical PracticeThe A‐DSES could be used in clinical practice and research to provide a reference for assessing self‐efficacy levels in areas of diabetes self‐management.No Patient or Public ContributionParticipants were not involved in the design, conduct, reporting or dissemination plans of this research.

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Genetics of Type 2 Diabetes: Past, Present, and Future

Cited by 35 publications

References 92 publications

A Strategic Research Framework for Defeating Diabetes in India: A 21st-Century Agenda

A Strategic Research Framework for Defeating Diabetes in India: A 21st-Century Agenda

Saudi Community-Based Screening Study on Genetic Variants in β-Cell Dysfunction and Its Role in Women with Gestational Diabetes Mellitus

The psychometric properties of the Diabetes Self‐Efficacy Scale in Saudis with type 2 diabetes

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