Association between TCF7L2 gene polymorphisms and susceptibility to Type 2 Diabetes Mellitus: a large Human Genome Epidemiology (HuGE) review and meta-analysis

<p>Abstract</p> <p>Background</p> <p>Transcription factor 7-like 2 (<it>TCF7L2</it>) has been shown to be associated with type 2 diabetes mellitus (T2MD) in multiple ethnic groups in the past two years, but, contradictory results were reported for Chinese and Pima Indian populations. The authors then performed a large meta-analysis of 36 studies examining the association of type 2 diabetes mellitus (T2DM) with polymorphisms in the <it>TCF7L2 </it>gene in various ethnicities, containing rs7903146 C-to-T (IVS3C>T), rs7901695 T-to-C (IVS3T>C), a rs12255372 G-to-T (IVS4G>T), and rs11196205 G-to-C (IVS4G>C) polymorphisms and to evaluate the size of gene effect and the possible genetic mode of action.</p> <p>Methods</p> <p>Literature-based searching was conducted to collect data and three methods, that is, fixed-effects, random-effects and Bayesian multivariate mete-analysis, were performed to pool the odds ratio (<it>OR</it>). Publication bias and study-between heterogeneity were also examined.</p> <p>Results</p> <p>The studies included 35,843 cases of T2DM and 39,123 controls, using mainly primary data. For T2DM and IVS3C>T polymorphism, the Bayesian <it>OR </it>for TT homozygotes and TC heterozygotes versus CC homozygote was 1.968 (95% credible interval (<it>CrI</it>): 1.790, 2.157), 1.406 (95% <it>CrI</it>: 1.341, 1.476), respectively, and the population attributable risk (PAR) for the TT/TC genotypes of this variant is 16.9% for overall. For T2DM and IVS4G>T polymorphism, TT homozygotes and TG heterozygotes versus GG homozygote was 1.885 (95%<it>CrI</it>: 1.698, 2.088), 1.360 (95% <it>CrI</it>: 1.291, 1.433), respectively. Four <it>OR</it>s among these two polymorphisms all yielded significant between-study heterogeneity (P < 0.05) and the main source of heterogeneity was ethnic differences. Data also showed significant associations between T2DM and the other two polymorphisms, but with low heterogeneity (<it>P </it>> 0.10). Pooled <it>OR</it>s fit a codominant, multiplicative genetic model for all the four polymorphisms of <it>TCF7L2 </it>gene, and this model was also confirmed in different ethnic populations when stratification of IVS3C>T and IVS4G>T polymorphisms except for Africans, where a dominant, additive genetic mode is suggested for IVS3C>T polymorphism.</p> <p>Conclusion</p> <p>This meta-analysis demonstrates that four variants of <it>TCF7L2 </it>gene are all associated with T2DM, and indicates a multiplicative genetic model for all the four polymorphisms, as well as suggests the <it>TCF7L2 </it>gene involved in near 1/5 of all T2MD. Potential gene-gene and gene-environmental interactions by which common variants in the <it>TCF7L2 </it>gene influence the risk of T2MD need further exploration.</p

Subretinal Brilliant Blue G migration during internal limiting membrane peeling

Universidade Federal de São Paulo, Paulista Sch Med, São Paulo, BrazilUniversidade Federal de São Paulo, Paulista Sch Med, São Paulo, BrazilWeb of Scienc

Treino em auto-observação e adesão à dieta em adulto com diabetes tipo 2

Este estudo verificou os efeitos do treino de auto-observação sobre a adesão à dieta em um adulto com diabetes Tipo 2. A coleta de dados ocorreu por meio de entrevistas no domicílio do participante. Após levantamento da linha de base, iniciou-se o treino no uso de protocolos para registro de automonitoramento (Passo 1), seguido de treino do relato verbal do paciente sobre a sua alimentação no dia anterior (Passo 2) e de treino no planejamento da adesão à dieta (Passo 3). O cálculo do Índice de Adesão à Dieta (IAD) do paciente e seus relatos verbais nortearam a análise dos resultados, que indicaram aumento na frequência de respostas de auto-observação do comportamento alimentar e no IAD no Passo 1. Esse ganho foi mantido no Passo 2 e maximizado com o treino no planejamento da adesão à dieta no Passo 3

Clinical validation of a smartphone-based retinal camera for diabetic retinopathy screening

Abstract Aims This study aims to compare the performance of a handheld fundus camera (Eyer) and standard tabletop fundus cameras (Visucam 500, Visucam 540, and Canon CR-2) for diabetic retinopathy and diabetic macular edema screening. Methods This was a multicenter, cross-sectional study that included images from 327 individuals with diabetes. The participants underwent pharmacological mydriasis and fundus photography in two fields (macula and optic disk centered) with both strategies. All images were acquired by trained healthcare professionals, de-identified, and graded independently by two masked ophthalmologists, with a third senior ophthalmologist adjudicating in discordant cases. The International Classification of Diabetic Retinopathy was used for grading, and demographic data, diabetic retinopathy classification, artifacts, and image quality were compared between devices. The tabletop senior ophthalmologist adjudication label was used as the ground truth for comparative analysis. A univariate and stepwise multivariate logistic regression was performed to determine the relationship of each independent factor in referable diabetic retinopathy. Results The mean age of participants was 57.03 years (SD 16.82, 9–90 years), and the mean duration of diabetes was 16.35 years (SD 9.69, 1–60 years). Age (P = .005), diabetes duration (P = .004), body mass index (P = .005), and hypertension (P < .001) were statistically different between referable and non-referable patients. Multivariate logistic regression analysis revealed a positive association between male sex (OR 1.687) and hypertension (OR 3.603) with referable diabetic retinopathy. The agreement between devices for diabetic retinopathy classification was 73.18%, with a weighted kappa of 0.808 (almost perfect). The agreement for macular edema was 88.48%, with a kappa of 0.809 (almost perfect). For referable diabetic retinopathy, the agreement was 85.88%, with a kappa of 0.716 (substantial), sensitivity of 0.906, and specificity of 0.808. As for image quality, 84.02% of tabletop fundus camera images were gradable and 85.31% of the Eyer images were gradable. Conclusions Our study shows that the handheld retinal camera Eyer performed comparably to standard tabletop fundus cameras for diabetic retinopathy and macular edema screening. The high agreement with tabletop devices, portability, and low costs makes the handheld retinal camera a promising tool for increasing coverage of diabetic retinopathy screening programs, particularly in low-income countries. Early diagnosis and treatment have the potential to prevent avoidable blindness, and the present validation study brings evidence that supports its contribution to diabetic retinopathy early diagnosis and treatment