Multiple Single Nucleotide Polymorphism Testing Improves the Prediction of Diabetic Retinopathy Risk with Type 2 Diabetes Mellitus.
Ontology highlight
ABSTRACT:
SUBMITTER: Hsiao YT
PROVIDER: S-EPMC8398882 | biostudies-literature |
REPOSITORIES: biostudies-literature
Similar Datasets
Project description:Studies have demonstrated that polymorphic variants of arginase 1 gene (ARG1) are involved in human diseases, such as coronary heart disease, hypertension, and diabetes. Our study aimed to investigate the association between ARG1 rs2781666 single nucleotide polymorphism (SNP) and diabetic retinopathy (DR) in type 2 diabetes (T2DM) patients. Polymorphism was genotyped in 740 T2DM patients and 400 healthy individuals. A significant difference in the genotype distribution was observed between the patients and the controls. The T allele and TT genotype were associated with an increased risk of T2DM (OR 1.4, 95% CI 1.14-1.72, p = 0.001 and OR 2.16, 95% CI 1.23-3.80, p = 0.007, respectively). When the T2DM subjects were stratified into DR+ and DR- subgroups, the T allele and TT genotype frequencies were significantly higher in the DR+ group compared to the DR- group, demonstrating OR 1.68 (1.33-2.12), p < 0.0001 and OR 2.39 (1.36-4.18), p = 0.002, respectively. Logistic regression analysis was applied to determine the interaction between the ARG1 genotypes and other risk factors. Only ARG1 rs2781666 SNP was a significant risk predictor of DR (p = 0.003). In conclusion, this is the first report discussing the effect of ARG1 polymorphism on the microvascular complications that are associated with diabetes. Our findings demonstrate that ARG1 rs2781666 SNP is significantly associated with an increased susceptibility to DR in T2DM patients.
| S-EPMC8620112 | biostudies-literature
Project description:AimsRenalase (RNLS) is an enzyme with monoamine oxidase activity that metabolizes circulating catecholamines. The RNLS gene Asp37Glu missense polymorphism (rs2296545) has been associated with hypertension, cardiac hypertrophy and dysfunction, and stroke. The purpose of our study was to investigate the potential involvement of this polymorphism in the microvascular complications of type 2 diabetes (T2DM).MethodsIn this case-control study, the polymorphism was genotyped in 860 patients with T2DM and 400 healthy controls. The genotype and allele distribution was compared in subgroups of patients: with diabetic nephropathy (DN+) (n = 405) versus DN- (independently of the presence of DR) and, similarly, patients with diabetic retinopathy (DR+) (n = 328) versus DR- (independently of the presence of DN).ResultsNo significant association was detected between analyzed polymorphism and DN. In contrast, the retinopathy subgroup showed a significantly higher frequency of G allele (OR 1.4, 95% CI 1.16-1.72, p = 0.0005) and GG genotype (OR 1.86, 95% CI 1.26-2.75, p = 0.001) than DR- patients. The effect of RNLS Glu37Asp polymorphism on DR remained significant after adjustments for age, gender, BMI, and duration of T2DM (p = 0.005).ConclusionsThis is the first study to investigate RNLS gene polymorphism in microvascular complications of T2DM. The results suggest that RNLS rs2296545 SNP might be considered a risk factor for diabetic retinopathy in T2DM patients. This can provide new insight into the role of renalase gene in the pathophysiology of microvascular complications of diabetes.
| S-EPMC8542546 | biostudies-literature
Project description:BackgroundTo develop a dynamic prediction model for diabetic retinopathy (DR) using systemic risk factors.MethodsThis retrospective study included type 2 diabetes mellitus (T2DM) patients discharged from the Second Affiliated Hospital of Kunming Medical University between May 2020 and February 2022. The early patients (80%) were used for the training set and the late ones (20%) for the validation set.ResultsFinally, 1257 patients (1049 [80%] in the training set and 208 [20%] in the validation set) were included; 360 (28.6%) of them had DR. The areas under the curves (AUCs) for the multivariate regression (MR), least absolute shrinkage and selection operator regression (LASSO), and backward elimination stepwise regression (BESR) models were 0.719, 0.727, and 0.728, respectively. The Delong test showed that the BESR model had a better predictive value than the MR (p = 0.04899) and LASSO (P = 0.04999) models. The DR nomogram risk model was established according to the BESR model, and it included disease duration, age at onset, treatment method, total cholesterol, urinary albumin to creatinine ratio (UACR), and urine sugar. The AUC, kappa coefficient, sensitivity, specificity, and compliance of the nomogram risk model in the validation set were 0.79, 0.48, 71.2%, 78.9%, and 76.4%, respectively.ConclusionsA relatively reliable DR nomogram risk model was established based on the BESR model.
| S-EPMC10142167 | biostudies-literature
Project description:We aimed to evaluate the association between the prevalence of diabetic retinopathy (DR) and coffee consumption in a Korean population. This cross-sectional study was based on data from the 2008-2011 Korean National Health and Nutrition Survey. Among 37,753 survey participants, the data of 1350 subjects with type 2 diabetes who underwent DR examination were analyzed. DR was graded using the modified Airlie House classification system. Coffee consumption data were obtained through food frequency questionnaires and categorized into four groups: almost none, < 1 cup/day, 1 cup/day, and ≥ 2 cups/day. The relationship between DR and coffee consumption was evaluated using multivariable logistic regression models adjusted for age, sex, education, occupation, income, smoking, alcohol intake, body mass index, physical activity, hypertension, dyslipidemia, diabetes duration, and glycated hemoglobin. The prevalence of DR was 20.0%. Non-proliferative DR was observed in 87.8% of all DR patients, and proliferative DR in 12.2%. The prevalence of DR and vision-threatening DR showed a significantly decreasing tendency according to daily coffee consumption (P for trend 0.025 and 0.005, respectively) after adjustment for possible confounders. This tendency was more prominent in those aged < 65 years (P for trend 0.005 and 0.003, respectively). Our findings suggest coffee consumption might be associated with DR reduction especially in Koreans with diabetes mellitus aged < 65 years.
| S-EPMC8894381 | biostudies-literature
Project description:Purpose:To evaluate neurodegeneration in patients with type 2 diabetes mellitus (DM2) without diabetic retinopathy and to assess the possible role of systemic vascular complications in retinal changes. Methods:Sixty eyes of 60 patients with DM2 and without any signs of diabetic retinopathy and 60 eyes of 60 healthy controls underwent retinal evaluation using Spectralis optical coherence tomography. Macular ganglion cell layer (GCL) and retinal nerve fiber layer (RNFL) were evaluated. Peripapillary RNFL thickness was assessed using Glaucoma and Axonal Analytics applications. Comparison between patients with the presence/absence of systemic vascular complications and different disease duration was made. Results:Macular GCL was reduced in patients compared to controls (p < 0.001). Differences in the macular RNFL thickness were only observed in the outer inferior sector (p=0.033). A reduction in the peripapillary RNFL (average, inferior, and inferotemporal thickness, p < 0.05 for all three) was observed in patients using both applications. Patients with chronic systemic vascular complications presented a reduction in the temporal RNFL (p=0.019) compared to patients without complications. The superotemporal RNFL thickness was thinner in patients with longer disease duration. Conclusions:Patients with type 2 DM without diabetic retinopathy and good metabolic control present neurodegeneration affecting neurons in the macular area and axons in different sectors of the optic disc. Systemic vascular complications contributed to further axonal damage in these patients, suggesting a possible role of subclinical ischaemia to retinal neurodegeneration in type 2 DM.
| S-EPMC6702840 | biostudies-literature
Project description:BackgroundThis study aims to investigate the choroidal thickness and choroidal vascular density parameters and their correlation with severity of diabetic retinopathy (DR) in diabetes mellitus (DM) patients.MethodsAn observational cross-sectional study was conducted of 104 eyes, which were divided into 4 groups: Healthy controls (n = 38), DM with no DR eyes (n = 22), panretinal photocoagulation-untreated non-proliferative DR eyes (PRP-untreated NPDR eyes) (n = 24), PRP-untreated proliferative DR eyes (PRP-untreated PDR eyes) (n = 20). Optical coherence tomography (OCT) was performed. The total choroidal area (TCA), stromal area (SA), the luminal areas (LA) and the ratio of the luminal to choroidal area (L/C ratio) were compared. The choroidal parameters were also compared between PRP untreated and PRP-treated DR eyes.ResultsThe L/C ratio values were 0.68 ± 0.06 in controls and 0.63 ± 0.04 in DM eyes (P < 0.001). But there were no statistically significant differences in retinal nerve fiber layer (RNFL) thickness, retinal thickness and subfoveal choroidal thickness (SCT) measurements between the two groups (P = 0.407, P = 0.654 and P = 0.849; respectively). The vessel density values were significantly different in DM with no DR eyes, PRP-untreated NPDR eyes and PRP-untreated PDR eyes (P < 0.001 for SCT, TCA and SA). The L/C ratio values in the three groups were significant different (P = 0.019). There was no significant difference in SCT, TCA, LA, SA and the L/C ratio between PRP-untreated and PRP-treated DR eyes.ConclusionEyes of patients with DM showed the L/C ratio decreased compared with normal controls. The SCT increased, but L/C ratio significantly decreased with severity of DR eyes compared with DM and normal eyes. Changes in the L/C ratio may predict DR development before they are otherwise evident clinically. Choroidal blood flow deficit can be an early pathologic change in DR.
| S-EPMC6697939 | biostudies-literature
Project description:BackgroundThe proportion of patients with diabetic retinopathy (DR) has grown with increasing number of diabetes mellitus patients in the world. It is among the major causes of blindness worldwide. The main objective of this study was to identify contributing risk factors of DR among people with type II diabetes mellitus.MethodA sample of 191 people with type II diabetes mellitus was selected from the Black Lion Specialized Hospital diabetic unit from 1 March 2018 to 1 April 2018. A multivariate stochastic regression imputation technique was applied to impute the missing values. The response variable, DR is a categorical variable with two outcomes. Based on the relationship derived from the exploratory analysis, the odds of having DR were not necessarily linearly related to the continuous predictors for this sample of patients. Therefore, a semiparametric model was proposed to identify the risk factors of DR.ResultFrom the sample of 191 people with type II diabetes mellitus, 98 (51.3%) of them had DR. The results of semiparametric regression model revealed that being male, hypertension, insulin treatment, and frequency of clinical visits had a significant linear relationships with the odds of having DR. In addition, the log- odds of having DR has a significant nonlinear relation with the interaction of age by gender (for female patients), duration of diabetes, interaction of cholesterol level by gender (for female patients), haemoglobin A1c, and interaction of haemoglobin A1c by fasting blood glucose with degrees of freedom [Formula: see text], respectively. The interaction of age by gender and cholesterol level by gender appear non significant for male patients. The result from the interaction of haemoglobin A1c (HbA1c) by fasting blood glucose (FBG) showed that the risk of DR is high when the level of HbA1c and FBG were simultaneously high.ConclusionClinical variables related to people with type II diabetes mellitus were strong predictive factors of DR. Hence, health professionals should be cautious about the possible nonlinear effects of clinical variables, interaction of clinical variables, and interaction of clinical variables with sociodemographic variables on the log odds of having DR. Furthermore, to improve intervention strategies similar studies should be conducted across the country.
| S-EPMC9830762 | biostudies-literature
Project description:PurposeThe purpose of this study was to evaluate specifically in type 1 diabetes mellitus (DM) individuals the relationship between perifoveal superficial capillary plexus (SCP) parameters assessed by optical coherence tomography angiography (OCTA) and diabetic retinopathy (DR) grade.MethodsCross-sectional analysis of a large scale prospective OCTA trial cohort (ClinicalTrials.gov NCT03422965). A total of 1186 eyes (593 individuals), 956 type 1 DM eyes (478 patients), and 230 control eyes (115 healthy volunteers) were included in this study. DR stage was graded according to the International Classification. OCTA imaging was performed with a commercially available device (Cirrus HD-OCT). Vessel density (VD), perfusion density (PD), and foveal avascular zone (FAZ) area, perimeter and circularity measurements were quantified in the SCP and receiver operating characteristic (ROC) curves were constructed for each OCTA parameter.ResultsVD and PD (in both 3 × 3 and 6 × 6 mm captures) were inversely associated with DR stage (P < 0.001 in all cases) in a multiple regression analysis after controlling by age, gender, signal strength index, axial length, and DM duration. Greater FAZ area and perimeter and conversely lower circularity measurements were observed as DR severity increased in both scanning protocols (P < 0.05 in all cases).ConclusionsIn type 1 DM individuals, OCTA provides an objective, continuous, and reliable method for accurate quantification of VD, PD, and FAZ parameters in the SCP, which ultimately correlate with DR stages.Translational relevanceObjective OCTA measurements of the retinal microvasculature could substitute the clinical DR classification in patients with type 1 DM, identify patients at risk of DR progression, and inform treatment decisions to modify the evolution of the disease.
| S-EPMC7533741 | biostudies-literature
Project description:Studies have documented dysbiosis in the gut mycobiome in people with Type 2 diabetes mellitus (T2DM). However, it is not known whether dysbiosis in the gut mycobiome of T2DM patients would be reflected in people with diabetic retinopathy (DR) and if so, is the observed mycobiome dysbiosis similar in people with T2DM and DR. Gut mycobiomes were generated from healthy controls (HC), people with T2DM and people with DR through Illumina sequencing of ITS2 region. Data were analysed using QIIME and R software. Dysbiotic changes were observed in people with T2DM and DR compared to HC at the phyla and genera level. Mycobiomes of HC, T2DM and DR could be discriminated by heat map analysis, Beta diversity analysis and LEfSE analysis. Spearman correlation of fungal genera indicated more negative correlation in HC compared to T2DM and DR mycobiomes. This study demonstrates dysbiosis in the gut mycobiomes in people with T2DM and DR compared to HC. These differences were significant both at the phyla and genera level between people with T2DM and DR as well. Such studies on mycobiomes may provide new insights and directions to identification of specific fungi associated with T2DM and DR and help developing novel therapies for Diabetes Mellitus and DR.
| S-EPMC7707496 | biostudies-literature
Project description:BackgroundDiabetic retinopathy (DR) is the primary oculopathy causing blindness in diabetic patients. Currently, there is increasing interest in the role of lipids in the development of diabetic retinopathy, but it remains controversial. Remnant cholesterol (RC) is an inexpensive and easily measurable lipid parameter; however, the relationship between RC and DR in type 2 diabetes mellitus (T2DM) has not been elucidated. This research investigates the relevance between RC levels and DR severity while building a risk prediction model about DR.MethodsIn this single-centre retrospective cross-sectional study. Each hospitalised T2DM patient had no oral lipid-lowering drugs in the past three months, and coronary angiography showed epicardial coronary artery stenosis of less than 50% and completed seven-field stereo photographs, fluorescein fundus angiography, and optical coherence tomography detection. The RC value is calculated according to the internationally recognised formula. Binary logistic regression was used to correct confounding factors, and the receiver operating characteristic (ROC) analysis was used to identify risk factors and assess the nomogram's diagnostic efficiency.ResultsA total of 456 T2DM patients were included in the study. The RC levels in the DR team was higher [0.74 (0.60-1.12) mmo/l vs 0.54 (0.31-0.83) mmol/l P < 0.001] in the non-DR team. After adjusting for confounding elements, RC levels are still associated with DR risk (OR = 5.623 95%CI: 2.996-10.556 P < 0.001). The ratio of DR in every stage (except mild non-proliferative diabetic retinopathy) and DME in the high RC level team were further increased compared to the low-level team (all P < 0.001). After ROC analysis, the overall risk of DR was predicted by a nomogram constructed for RC, diabetes duration, and the neutrophil-lymphocyte ratio as 0.758 (95%CI 0.714-0.802 P < 0.001).ConclusionsHigh RC levels may be a potential risk factor for diabetic retinopathy, and the nomogram does better predict DR. Despite these essential findings, the limitation of this study is that it is single-centred and small sample size analysis.
| S-EPMC8772129 | biostudies-literature