Genetics of Diabetic Retinopathy

Cho, Heeyoon; Sobrin, Lucia

doi:10.1007/s11892-014-0515-z

Cited by 74 publications

(44 citation statements)

References 51 publications

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“…Other factors include hypertension [5], and disturbances of lipid metabolism [6]. There is also emerging evidence that diabetic retinopathy is a polygenic disorder, with familial clustering, and different levels of heritability for proliferative and non-proliferative retinopathy [7] Of particular importance in the present context are lifestyle factors and the differences between urban and rural groups, especially the level of physical activity which has been shown to have glucoseindependent effects on endothelial function in T1DM [8]. Visual impairment and blindness are handicaps in any society and especially so in regions where access to appropriate clinical services may be limited; in these areas severe visual impairment and blindness are closely associated with poverty.…”

Section: Introductionmentioning

confidence: 99%

Retinopathy in type 1 diabetes mellitus: Major differences between rural and urban dwellers in northwest Ethiopia

Alemu¹,

Dessie²,

Tsegaw³

et al. 2015

Diabetes Research and Clinical Practice

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Aim: To audit levels of diabetes-related eye disease in Type 1 diabetes mellitus (T1DM) patients in northwest Ethiopia. In particular to establish whether, despite identical clinical goals, major differences between the physically demanding life-style of rural subsistence farmers and the sedentary life-style of urban dwellers would influence the prevalence of diabetes-related eye complications.Methods: A robust infrastructure for chronic disease management that comprehensively includes all rural dwellers was a pre-requisite for the investigation. A total of 544 T1DM were examined, representing 80% of all T1DM patients under regular review at both the urban and rural clinics and representative of patient age and gender (62.1% male, 37.9% female) of T1DM patients from this region; all were supervised by the same clinical team. Eye examinations were performed for visual acuity, cataract and retinal changes (retinal photography). HbA1c levels and the presence or absence of hypertension were recorded.Results/Conclusions: Urban and rural groups had similar prevalences of severe visual impairment/blindness (7.0% urban, 5.2% rural) and cataract (7.3% urban, 7.1% rural). By contrast, urban dwellers had a significantly higher prevalence of retinopathy compared to rural patients, 16.1% and 5.0%, respectively (OR 2.9, p<0.02, after adjustment for duration, age, gender and hypertension). There was a 3-fold greater prevalence of hypertension in urban patients, whereas HbA1c levels were similar in the two groups. Since diabetic retinopathy is closely associated with microvascular disease and endothelial dysfunction, the possible influences of hypertension to increase and of sustained physical activity to reduce endothelial dysfunction are discussed.

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Section: Introductionmentioning

confidence: 99%

Retinopathy in type 1 diabetes mellitus: Major differences between rural and urban dwellers in northwest Ethiopia

Alemu¹,

Dessie²,

Tsegaw³

et al. 2015

Diabetes Research and Clinical Practice

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“…15 Similarly diabetic retinopathy does not develop in all patients with these risk factors. 15 It is obvious that genetic predisposition is necessary for the development of diabetic retinopathy. Heritability was reported as 27% for diabetic retinopathy, and 52% for proliferative diabetic retinopathy and advanced diabetic proliferative retinopathy.…”

Section: Discussionmentioning

confidence: 99%

“…Diabetic retinopathy is the leading cause of blindness in the USA for adults aged 20-74. 15 The risk of the development of diabetic retinopathy is related to poor glycemic and blood pressure control and the duration of diabetes similar to nephropathy. 15 Similarly diabetic retinopathy does not develop in all patients with these risk factors.…”

Section: Discussionmentioning

confidence: 99%

“…15 The risk of the development of diabetic retinopathy is related to poor glycemic and blood pressure control and the duration of diabetes similar to nephropathy. 15 Similarly diabetic retinopathy does not develop in all patients with these risk factors. 15 It is obvious that genetic predisposition is necessary for the development of diabetic retinopathy.…”

Section: Discussionmentioning

confidence: 99%

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GAS6intron 8 c.834 + 7G > A gene polymorphism in diabetic nephropathy

et al. 2015

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Background -Aim: In animal experiments, growth arrest-specific 6 (Gas6) protein plays a key role in the development of mesangial cell and glomerular hypertrophy in the early phase of diabetic nephropathy, and diabetic nephropathy is prevented by warfarin-induced inhibition of GAS6 protein. It was shown that GAS6 intron 8 c.834 + 7G4A polymorphism is protective against type 2 diabetes mellitus, and AA genotype is associated with higher blood levels of GAS6 protein. Our aim is to investigate whether this polymorphism is a risk factor for diabetic nephropathy in type 2 diabetes mellitus. Method: Eighty-seven patients with diabetic nephropathy were compared with 66 non-diabetic controls in terms of GAS6 intron 8 c.834 + 7G4A polymorphism. Patients with history of stroke, ischemic heart disease were excluded. Each patient was examined by the ophthalmologist to determine diabetic retinopathy. Results: Frequency of GG, GA and AA genotypes are similar in diabetic nephropathy and control groups according to GAS6 intron 8 c.834 + 7G4A polymorphism (p ¼ 0.837). Rate of diabetic retinopathy was 54.02%. In the subgroup analysis, GA genotype was significantly more frequent than GG genotype in patients with diabetic retinopathy when compared to without diabetic retinopathy (p ¼ 0.010). Conclusion: In our study, GAS6 intron 8 c.834 + 7G4A polymorphism was not associated with diabetic nephropathy in type 2 diabetes mellitus. However, heterozygous state of this polymorphism may be a risk factor for diabetic retinopathy in patients with diabetic nephropathy.

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“…Ideally, controls would be participants with very long durations of diabetes and no DR or DKD. Based on the recognition that these individuals are a small subset of the diabetic population, controls have often been defined more loosely than this to achieve a critical control sample size in today's studies [119].…”

Section: Discussionmentioning

confidence: 99%

Novel Genetic Actors of Diabetes-Associated Microvascular Complications: Retinopathy, Kidney Disease and Neuropathy

Davoudi¹,

Sobrin²

2016

Rev Diabet Stud

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■ AbstractBoth type 1 and type 2 diabetes mellitus can lead to the common microvascular complications of diabetic retinopathy, kidney disease, and neuropathy. Diabetic patients do not universally develop these complications. Long duration of diabetes and poor glycemic control explain a lot of the variability in the development of microvascular complications, but not all. Genetic factors account for some of the remaining variability because of the heritability and familial clustering of these complications. There have been a large number of investigations, including linkage studies, candidate gene studies, and genome-wide association studies, all of which have sought to identify the specific variants that increase susceptibility. For retinopathy, several genomewide association studies have been performed in small or midsize samples, but no reproducible loci across the studies have been identified. For diabetic kidney disease, genomewide association studies in larger samples have been performed, and loci for this complication are beginning to emerge. However, validation of the existing discoveries, and further novel discoveries in larger samples is ongoing. The amount of genetic research into diabetic neuropathy has been very limited, and much is dedicated to the understanding of genetic risk factors only. Collaborations that pool samples and aim to detect phenotype classifications more precisely are promising avenues for a better explanation of the genetics of diabetic microvascular complications.

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Genetics of Diabetic Retinopathy

Cited by 74 publications

References 51 publications

Retinopathy in type 1 diabetes mellitus: Major differences between rural and urban dwellers in northwest Ethiopia

Retinopathy in type 1 diabetes mellitus: Major differences between rural and urban dwellers in northwest Ethiopia

GAS6intron 8 c.834 + 7G > A gene polymorphism in diabetic nephropathy

Novel Genetic Actors of Diabetes-Associated Microvascular Complications: Retinopathy, Kidney Disease and Neuropathy

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