PPARÉ£2, aldose reductase, and TCF7L2 gene polymorphisms: relation to diabetes mellitus.

Purpose: Diabetes mellitus (DM) is a growing global health concern. Genetic factors play a pivotal role in the development of diabetes. Therefore, the present work aimed to study the relation between peroxisome proliferator-activate receptors (PPARɣ2) (rs3856806), aldose reductase (AR) (rs759853), transcription factor 7 like 2 (TCF7L2) (rs7903146) gene polymorphism with diabetes in the Egyptian population. Methods: The study included 260 diabetics and 120 healthy subjects. Genotyping was done using polymerase chain reaction-restriction fragment length polymorphism. Results: Regression analysis revealed that PPARɣ2 TT, TCF7L2 TT were suggested to be independent risk predictors for T1DM and TCF7L2 TC, CC genotype were suggested to be independent protective factors against T1DM development. On the other hand, PPARɣ2 TT, AR TT genotypes were suggested to be independent risk predictors for T2DM susceptibility, and PPARɣ2 CT genotypes were suggested to be independent protective factors against T2DM development. Conclusion: The present study revealed that PPARγ2 (rs3856806), TCF7L2 (rs7903146) and AR (rs759853) gene polymorphism may play an important role in the susceptibility of diabetes. Therefore, these polymorphisms may have a prognostic value for diabetes in the Egyptian population. Further work is required to confirm the role of these polymorphisms in diabetes.

Evaluation of some oxidative markers in diabetes and diabetic retinopathy.

AIMS: Diabetes mellitus and diabetic retinopathy (DR) are major public health concerns globally. Oxidative stress plays a central role in the pathogenesis of diabetes and DR. The aim of this study was to investigate the association of malondialdehyde, uric acid and bilirubin with diabetes and diabetic retinopathy development. METHODS: This study was conducted on 110 diabetics (with and without retinopathy). Beside 40 healthy individuals as a control group. The level of three markers (malondialdehyde, uric acid and bilirubin) was estimated in the studied groups. Receiver operating characteristic analysis and a logistic regression model was performed. RESULTS: The present study revealed significantly higher uric acid and malondialdehyde levels, while bilirubin showed significantly lower levels in diabetics compared to control and similarly in diabetic retinopathy compared to those without DR. Furthermore, combination of the three markers increased the accuracy and effect size for differentiation between diabetes with and without DR. In addition, higher levels of uric acid and malondialdehyde were associated with risk of diabetes and DR development. CONCLUSION: This study concluded that higher levels of uric acid and malondialdehyde were associated with increase in the risk of diabetes and DR development, while bilirubin wasn't associated with decreasing the risk of diabetes or DR. However, the combination of malondialdehyde, uric acid and bilirubin may be a valuable addition to the current options for the prognosis of DR. In addition, malondialdehyde may be independent predictor of diabetes and DR as well as uric acid may be used as independent biomarker to predict the risk of DR.

Association of transcription factor 7-like 2 (rs7903146) gene polymorphism with diabetic retinopathy.

BACKGROUND: Diabetic retinopathy (DR) is one of the most common diabetic complications. Genetic factors play an important role in the development and progression of DR. So, the present study aimed to investigate the association of TCF7L2 (rs7903146) gene polymorphism with the risk of DR in type1 and type2 DM (T1DM and T2DM) in the Egyptian population. MATERIALS AND METHODS: This work is a case-control study in which 550 diabetic patients were enrolled. Among them, 280 diabetics with DR (120 T1DM and 160 with T2DM) and 270 diabetic patients without DR (120 T1DM and 150 with T2DM). Besides, 120 healthy subjects as a control group. Genotyping of TCF7L2 (rs7903146) (C/T) was done following DNA extraction using polymerase chain reaction-restriction fragment length polymorphism. RESULTS: C allele and CC genotype of TCF7L2 (rs7903146) were significantly associated with increased risk for DR within T2DM in multiplicative and recessive models. While dominant model showed no significant association with DR. Although TC may be associated with a decreased risk for DR in T1DM and T2DM in over dominant model, there was no significant association of TCF7L2 (rs7903146) with the risk of DR susceptibility within T1DM in multiplicative, dominant, and recessive models. CONCLUSION: The present study revealed the association of TCF7L2 (rs7903146) polymorphism with DR susceptibility within diabetic patients. Therefore, TCF7L2 (rs7903146) gene polymorphism may have a prognostic value for diabetic retinopathy in the Egyptian population. Further work is required to confirm the association of this polymorphism as a risk for DR.