Search Results (19)

The rs1801133 (C677T) polymorphism of the methylenetetrahydrofolate reductase (MTHFR) gene has been linked to type 2 diabetes (T2D) risk. This study aimed to assess the association between rs1801133 genotypes (CC, CT, TT) and T2D across multiethnic populations and to identify genotype- and region-specific risks. A global meta-epidemiological analysis was conducted using data from 19 studies comprising 6479 participants from Asia, Africa, Europe, and America. Odds ratios (OR) and 95% confidence intervals (CIs) were calculated using random-effects models. Subgroup analyses by region were also performed. The results of the CC vs. CT dominant genetic model were OR 95% CI = 0.63 (0.46–0.87); p = 0.005; the CC vs. TT genetic recessive model yielded OR 95% CI = 0.59 (0.38–0.91); p = 0.02; and the CT vs. TT codominance genetic model yielded OR 95% CI = 0.95 (0.65–1.37); p = 0.78. Based on the subgroup analysis, the CC genotype is predominantly associated with an increased risk of T2D in both Africa and Europe. From this study, the CC genotype was proven to be highly contributory to T2D risk compared to the CT and TT genotypes. These findings highlight the need for ethnicity-informed genetic screening and targeted prevention strategies in global diabetes management. Full article

The potential utility of microRNAs (miRNAs) as diagnostic or prognostic biomarkers, as well as therapeutic targets, for chronic kidney disease (CKD) has been advocated. However, studies evaluating the expression profile of the same miRNA signatures in CKD report contradictory findings. This review aimed to characterize miRNAs associated with CKD and/or measures of kidney function and kidney damage in the general population, and also in high-risk subgroups, including people with hypertension (HTN), diabetes mellitus (DM) and human immunodeficiency virus (HIV) infection. Medline via PubMed, Scopus, Web of Science, and EBSCOhost databases were searched to identify relevant studies published in English or French languages on or before 30 September 2022. A total of 75 studies fulfilled the eligibility criteria: CKD (n = 18), diabetic kidney disease (DKD) (n = 51) and HTN-associated CKD (n = 6), with no study reporting on miRNA profiles in people with HIV-associated nephropathy. In individuals with CKD, miR-126 and miR-223 were consistently downregulated, whilst in DKD, miR-21 and miR-29b were consistently upregulated and miR-30e and let-7a were consistently downregulated in at least three studies. These findings suggest that these miRNAs may be involved in the pathogenesis of CKD and therefore invites further research to explore their clinical utility for CKD prevention and control. Full article

The oral microbiota plays a crucial role in both systemic inflammation and metabolic syndrome (MetS), which is characterised by low-grade inflammation. Studies have analysed the gut microbiota using stool specimens from subjects with MetS; however, the etiological role of the oral microbiota in the development of MetS is still uncertain. We investigated the oral microbiota of 128 subgingival plaque samples from a South African cohort with and without MetS. After a comprehensive analysis of the oral microbiota, we observed a significant increase in Gram-positive aerobic and anaerobic microbiota in those with MetS. We observed an abundance of Actinomyces, Corynebacterium, and Fusobacterium genera in the MetS group, which differed significantly from previous studies, which found Granulicatella to be enriched in MetS. To further assess the impact of the metabolic parameters (FBG, Waist C, HDL, TGs, and BP) on the oral microbiota, we calculated the odds ratio (ORs) for significant oral microbiota identified between the MetS groups. We found that different species were associated with at least four MetS risk factors. This study has shown that the oral microbiota is disrupted in MetS and may promote inflammation providing a gateway to other systemic diseases, including diabetes and cardiovascular diseases. Full article

Vitamin D reportedly plays an important role in the pathogenesis of diabetes mellitus; however, this role is unclear and debated. This study investigated the association between 25(OH) vitamin D, vitamin D-binding proteins, and vitamin D receptor (VDR) polymorphisms in healthy individuals and those with prediabetes and type 2 diabetes mellitus (T2D) from South Africa. A cross-sectional study was conducted involving subjects of mixed ancestry aged ≥20 years. Males presented with higher mean 25(OH) vitamin D levels than females, while females exhibited significantly higher serum vitamin D-binding protein levels. Significant differences in mean 25(OH) vitamin D levels were observed in normo-glycaemic, prediabetes, screen-detected DM, and known DM individuals. Vitamin D receptor SNPs Fok1 and Taq1 were not associated with glycaemic status. Fok1 was not associated with 25(OH) vitamin D deficiency, while Taq1 was associated with vitamin D insufficiency. This study showed a high prevalence of vitamin D deficiency/insufficiency in this South African population, with decreased vitamin D levels observed in hyperglycaemic individuals, which was not linked to either vitamin D-binding protein or polymorphisms in Fok1 of the VDR gene. These results may be used as a platform for further research into diagnosis and treatment of hyperglycaemia. Full article

The 5-10-methylenetetrahydrofolate reductase (MTHFR) enzyme is vital for cellular homeostasis due to its key functions in the one-carbon cycle, which include methionine and folate metabolism and protein, DNA, and RNA synthesis. The enzyme is responsible for maintaining methionine and homocysteine (Hcy) balance to prevent cellular dysfunction. Polymorphisms in the MTHFR gene, especially C677T, have been associated with various diseases, including cardiovascular diseases (CVDs), cancer, inflammatory conditions, diabetes, and vascular disorders. The C677T MTHFR polymorphism is thought to be the most common cause of elevated Hcy levels, which is considered an independent risk factor for CVD. This polymorphism results in an amino acid change from alanine to valine, which prevents optimal functioning of the enzyme at temperatures above 37 °C. Many studies have been conducted to determine whether there is an association between the C677T polymorphism and increased risk for CVD. There is much evidence in favour of this association, while several studies have concluded that the polymorphism cannot be used to predict CVD development or progression. This review discusses current research regarding the C677T polymorphism and its relationship with CVD, inflammation, diabetes, and epigenetic regulation and compares the evidence provided for and against the association with CVD. Full article

The Toddler and Infant (TANDI) dimensions of Health-Related Quality of Life assess ‘age appropriate’ behaviour and measurement could be extended to older children. A sample of 203 children 3–4 years of age was recruited, and their caregivers completed the TANDI, Pediatric Quality of Life Inventory (PedsQL) and EQ-5D-Y Proxy. Spearman and Pearson’s correlation coefficients, and Kruskal–Wallis H-test were used to explore the feasibility, known-group validity, discriminate validity and concurrent validity of the TANDI. Children with a health condition (n = 142) had a lower ceiling effect (p = 0.010) and more unique health profiles (p < 0.001) than the healthy group (n = 61). The TANDI discriminated between those with and without a health condition. In children with a health condition, the TANDI discriminated between clinician rated severity of the health condition. The TANDI had moderate to strong correlations with similar PedsQL and EQ-5D-Y items and scores. The TANDI is valid for children aged 3–4 years and is recommended for children with a health condition, whereas the PedsQL may be better for healthy children. The TANDI is recommended for studies with young children whereas the EQ-5D-Y Proxy is recommended for a sample including older children or for longitudinal studies with preschoolers. Further work on the TANDI is recommended to establish test-retest reliability and responsiveness. Full article

Maturity-Onset Diabetes of the Young (MODY) is the most common form of monogenic diabetes resulting from a single gene mutation. It is characterized by mild hyperglycemia, autosomal dominant inheritance, early onset of diabetes (<25 years), insulin resistance, and preservation of endogenous insulin secretion. Currently, 14 MODY subtypes have been identified, with differences in incidence, clinical features, diabetes severity and related complications, and treatment response. This type of diabetes is mostly misdiagnosed as either type 1 or type 2 diabetes mellitus because it is difficult to differentiate between these forms of diabetes due to clinical similarities, the high cost of genetic testing, and lack of awareness. As a result, thousands of patients are not receiving appropriate treatment. Accurate diagnosis would allow for more effective therapeutic management and treatment strategies that are distinct from those used for type 1 and type 2 diabetes. This review serves to explore MODY subtypes, diagnosis, and treatment, and increase awareness of MODY incidence. Full article

The asymptomatic nature of and lack of effective early-stage diagnostic tools in CKD, predisposes individuals to the risk of end-stage CKD and related complications. Whole blood microRNAs (miRNAs) have the potential for CKD risk screening. We evaluated the expression profile of six novel whole blood miRNAs as well as their ability to predict prevalent CKD in individuals with hypertension and/or diabetes. We included 911 individuals with hypertension and/or diabetes, of which 18.8% had prevalent CKD. The miRNA expression was analyzed using quantitative reverse transcription PCR (RT-PCR). Five of the six miRNAs, namely hsa-miR-novel-chr1_36178, hsa-miR-novel-chr2_55842, hsa-miR-novel-chr7_76196, hsa-miR-novel-chr5_67265, and hsa-miR-novel-chr13_13519, were significantly increased in people with CKD (all p < 0.028). Only the increased expression of hsa-miR-novel-chr2_55842 and hsa-miR-novel-chr7_76196 were independently associated with reduced estimated glomerular filtration rate (eGFR) (both p ≤ 0.038), while all the analyzed miRNAs were positively associated with prevalent CKD (all p ≤ 0.038). All the blood miRNAs were acceptable predictors of CKD (C-statistic > 0.7 for all), with similar predictive capacity (p = 0.202). However, hsa-miR-novel-chr13_13519 added to CKD prediction beyond conventional factors (p = 0.040). Novel whole blood miRNAs showed an acceptable discriminative power to predict prevalent CKD; thereby suggesting the potential use of these miRNAs, particularly hsa-miR-novel-chr13_13519, in clinical practice as a screening tool for CKD in high-risk individuals. Full article

This cross-sectional study investigated the association of miR-1299, -126-3p and -30e-3p with and their diagnostic capability for dysglycaemia in 1273 (men, n = 345) South Africans, aged >20 years. Glycaemic status was assessed by oral glucose tolerance test (OGTT). Whole blood microRNA (miRNA) expressions were assessed using TaqMan-based reverse transcription quantitative-PCR (RT-qPCR). Receiver operating characteristic (ROC) curves assessed the ability of each miRNA to discriminate dysglycaemia, while multivariable logistic regression analyses linked expression with dysglycaemia. In all, 207 (16.2%) and 94 (7.4%) participants had prediabetes and type 2 diabetes mellitus (T2DM), respectively. All three miRNAs were significantly highly expressed in individuals with prediabetes compared to normotolerant patients, p < 0.001. miR-30e-3p and miR-126-3p were also significantly more expressed in T2DM versus normotolerant patients, p < 0.001. In multivariable logistic regressions, the three miRNAs were consistently and continuously associated with prediabetes, while only miR-126-3p was associated with T2DM. The ROC analysis indicated all three miRNAs had a significant overall predictive ability to diagnose prediabetes, diabetes and the combination of both (dysglycaemia), with the area under the receiver operating characteristic curve (AUC) being significantly higher for miR-126-3p in prediabetes. For prediabetes diagnosis, miR-126-3p (AUC = 0.760) outperformed HbA1c (AUC = 0.695), p = 0.042. These results suggest that miR-1299, -126-3p and -30e-3p are associated with prediabetes, and measuring miR-126-3p could potentially contribute to diabetes risk screening strategies. Full article

(1) Background: Tooth loss is an important component of the global burden of oral disease, greatly reducing the quality of life of those affected. Tooth loss can also affect diet and subsequent incidences of lifestyle diseases, such as hypertension and metabolic syndromes. This study aimed to evaluate the oral health-related quality of life (OHRQoL) score using the oral impacts on daily performance (OIDP) index in relation to tooth loss patterns among adults. (2) Methods: From 2014 to 2016, a cross-sectional study was conducted on adults living in Bellville South, Cape Town, South Africa. The OHRQoL measure was used to evaluate the impact of tooth loss. (3) Results: A total of 1615 participants were included, and 143 (8.85%) had at least one impact (OIDP > 0). Males were less likely to experience at least one impact compared to the females, OR=0.6, 95% C.I.: 0.385 to 0.942, p = 0.026. Those participants who did not seek dental help due to financial constraints were 6.54 (4.49 to 9.54) times more likely to experience at least one impact, p < 0.001. (4) Conclusions: Tooth loss did not impact the OHRQoL of these subjects. There was no difference in the reported odds for participants experiencing at least one oral impact with the loss of their four anterior teeth, the loss of their posterior occlusal pairs, or the loss of their other teeth. Full article

The aeroponic plant root environment has a significant role in producing high-quality seed tuber potatoes. However, in lowland and tropical regions, the aeroponic system cannot yield high-quality potato seed because the average environment temperature year-round is high. In a high-temperature environment, the potato plant roots cannot optimally absorb the nutrient solution for healthy plant growth. This paper presents the method used to maintain the aeroponics root chamber temperature conditions. An air conditioning system was adopted to supply air with the optimal temperature range for mini-tuber potato seed cultivation. The vapor compression refrigeration type was applied in the air conditioning system. The root chamber temperature is controlled and monitored using an Arduino Uno board system. The mini-tuber potato seed cultivation field experiment results show the proposed method can maintain the aeroponic root chamber temperature. The root chamber temperature treatment operated in the 10 °C–20 °C range. This temperature range improved the potato seed tuber yield. The potato seed tuber yield potential is observed from the stolon number produced by the mini-tuber potato plants cultivated in the root chamber with the conditioned temperature. The field experiment reveals that the stolon number produced by potato seeds cultivated in the root chamber with conditioned temperature was up to 77% greater than the number of potato seeds cultivated in the root chamber with the unconditioned temperature. Full article

Metformin, which is used as a first line treatment for type 2 diabetes mellitus (T2DM), has been shown to affect epigenetic patterns. In this study, we investigated the DNA methylation and potential lncRNA modifications in metformin-treated and newly diagnosed adults with T2DM. Genome-wide DNA methylation and lncRNA analysis were performed from the peripheral blood of 12 screen-detected and 12 metformin-treated T2DM individuals followed by gene ontology (GO) and KEGG pathway analysis. Differentially methylated regions (DMRs) observed showed 22 hypermethylated and 11 hypomethylated DMRs between individuals on metformin compared to screen-detected subjects. Amongst the hypomethylated DMR regions were the SLC gene family, specifically, SLC25A35 and SLC28A1. Fifty-seven lncRNA-associated DNA methylation regions included the mitochondrial ATP synthase-coupling factor 6 (ATP5J). Functional gene mapping and pathway analysis identified regions in the axon initial segment (AIS), node of Ranvier, cell periphery, cleavage furrow, cell surface furrow, and stress fiber. In conclusion, our study has identified a number of DMRs and lncRNA-associated DNA methylation regions in metformin-treated T2DM that are potential targets for therapeutic monitoring in patients with diabetes. Full article

The expression of blood group antigens varies across human populations and geographical regions due to natural selection and the influence of environment factors and disease. The red cell membrane is host to numerous surface antigens which are able to influence susceptibility to disease, by acting as receptors for pathogens, or by influencing the immune response. Investigations have shown that Human Immunodeficiency Virus (HIV) can bind and gain entry into erythrocytes, and therefore it is hypothesized that blood groups could play a role in this process. The ABO blood group has been well studied. However, its role in HIV susceptibility remains controversial, while other blood group antigens, and the secretor status of individuals, have been implicated. The Duffy antigen is a chemokine receptor that is important in the inflammatory response. Those who lack this antigen, and type as Duffy null, could therefore be susceptible to HIV infection, especially if associated with neutropenia. Other antigens including those in the Rh, Lutheran and OK blood group systems have all been shown to interact with HIV. More recently, experiments show that cells which overexpress the P^k antigen appear to be protected against infection. These reports all demonstrate that red cell antigens interact and influence HIV infection. However, as the red cell membrane is complex and the pathogenesis of HIV multi-factorial, the role of blood group antigens cannot be studied in isolation. Full article

Oral mucosal lesions (OML) can decrease oral health-related quality of life and some have the potential to become malignant. The aim of the present study was to report the prevalence of OML in relation to age, sex, and serum cotinine levels in a population with mixed ancestry from South Africa. This study is part of the Cape Town Vascular and Metabolic Health (VHM) study, conducted between 2014–2016. Trained dental examiners assessed the oral mucosa for the presence of OML according to WHO criteria. In total, 1976 individuals were included in the study, being 1496 females (75.7%) and 480 males (24.3%) with average age of 49.5 years (SD = 15.3). In total, 262 lesions were detected in 252 participants (overall prevalence of 13%). Males had higher prevalence than females (14% vs. 9%, p = 0.008). Participants aged 25–34 had the highest prevalence rates (21%). Participants who had cotinine ≥15 ng/mL had higher prevalence of OML as compared to those with <15 ng/mL (15% vs. 5%, p < 0.001). Most common lesions were nicotine stomatitis (33%) and leukoplakia (19%). Age, male sex, and higher cotinine levels were associated with increased prevalence of OML. Full article

Periodontal diseases are among the six most prevalent non-communicable diseases (NCDs) worldwide, constituting a burden for oral and general health. There is a shortage of epidemiological data on periodontal diseases in Africa. The aim of the present cross-sectional study was to present the periodontal status and cotinine levels of a South African population of adults. This study included individuals living in the Belville South area. Bleeding on probing (BOP) and pocket depth were recorded for each tooth, and clinical attachment loss (CAL) was recorded as the highest score per sextant. Cotinine levels were measured in ng/mL. A total of 951 individuals were included. More than one third of all subjects had BOP. Regarding pocket depth, over 50% of the subjects had shallow pockets (4–5 mm), and almost 6% had deep pockets. CAL ≥ 4 mm was present in 40.1% of the subjects. Males presented worse periodontal conditions than females. In total, 52.7% of the participants had serum cotinine levels of ≥15 ng/mL. Cotinine levels had no effect on periodontal variables. Periodontal diseases were highly prevalent, and periodontal conditions were worse in males. Preventive and restorative public health programs are required to improve oral health in this population. Full article