Genetic Susceptibility to the Development of Retinopathy in Insulin-dependent Diabetics

Dornan, Timothy; Ting, A.; McPherson, C. K.; Peckar, C O; Mann, J I; Morris, Peter J.

doi:10.1097/00006982-198200220-00011

Cited by 11 publications

(15 citation statements)

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“…Table 3 In spite of markedly reduced endogenous insulin secretion and glucose intolerance, HbA,values in the 3 cases studied were within or close to the normal range, without insulin treatment. The association of severe retinopathy and normal HbA, observed in one of our cases suggests other risk factors than high blood glucose levels for the development of microvascular disease (16,17,18).…”

Section: Discussionsupporting

confidence: 48%

Maturity‐Onset Diabetes of the Young

et al. 1989

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A Norwegian family showed 20 cases of verified or suspected diabetes in 5 generations, 13 being females and 7 males. In 12 patients the diagnosis was established at 26 years of age or earlier. Fourteen patients were definitely non-insulin-dependent. A high frequency of severe diabetic ophthalmopathy was noted, five patients were blind, two had proliferative retinopathy, and one simplex retinopathy and cataract. Five patients from the last 3 generations were islet cell antibody negative and C-peptide positive. In selected patients the serum insulin response to oral glucose was markedly reduced. HLA determinations in these patients showed absence of DR3 and DR4, and presence of DR2. The inheritance of diabetes in this family is compatible with an autosomal, dominant trait, and the majority of cases fulfilled the criteria of maturity-onset diabetes of the young. The high frequency of severe ophthalmopathy underscores that this disease may have an unfavourable evolution.

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Section: Discussionsupporting

confidence: 48%

Maturity‐Onset Diabetes of the Young

et al. 1989

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“…Some studies suggest that retinopathy is associated with HLA-DR4 in Type 1 diabetic subjects [35], but this is not supported by others [36]. With respect to Type 2 diabetic subjects, clustering of retinopathy appears to be seen more among monozygotic twins compared with dizygotic twins [37].…”

Section: Discussionmentioning

confidence: 95%

Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients

Mohan¹,

Saravanan²,

Deepa³

et al. 2002

Diabetic Medicine

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“…The role of 'genetic influences' in diabetic retinopathy has been difficult to define due to differences in patient recruitment methods, patient selection criteria, risk factors, variation in ethnicity, and clinical differences in evaluating retinopathy status. There have been a number of association studies of diabetic retinopathy, including those implicating involvement of the major histocompatibility complex (MHC) (37,38). We are analyzing various markers from the NO regulation pathway and MHC region of chromosome 6.…”

Section: Discussionmentioning

confidence: 99%

Genotyping and functional analysis of a polymorphic (CCTTT)_nrepeat of NOS2A in diabetic retinopathy

et al. 1999

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Accumulating evidence shows that the severity and rapidity of onset of diabetic retinopathy are influenced by genetic factors. Expression of the nitric oxide synthases is altered in the retinal vasculature in the early stages of diabetic retinopathy. We analyzed the allele distribution of a polymorphic pentanucleotide repeat within the 5' upstream promoter region of the NOS2A gene in samples of diabetic patients. In diabetic patients from Northern Ireland, the 14-repeat allele of the NOS2A marker was significantly associated with the absence of diabetic retinopathy. Carriers of this repeat had 0.21-fold the relative risk of developing diabetic retinopathy than noncarriers of this allele. They also had significantly fewer renal and cardiovascular complications. The ability of differing numbers of (CCTTT)(n) pentanucleotide repeats to induce transcription of the NOS2A gene was analyzed using a luciferase reporter gene assay in transfected colonic carcinoma cells. Interleukin 1beta (IL-1beta) induction was most effective in constructs carrying the 14-repeat allele. When cells were incubated in 25 mM glucose to mimic the diabetic state, IL-1beta induction was inhibited in all cases, but to a significantly lesser extent with the 14-repeat allele. These unique properties of the 14-repeat allele may confer selective advantages in diabetic individuals, which may delay or prevent microvascular complications of diabetes.

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Genetic Susceptibility to the Development of Retinopathy in Insulin-dependent Diabetics

Cited by 11 publications

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Maturity‐Onset Diabetes of the Young

Maturity‐Onset Diabetes of the Young

Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients

Genotyping and functional analysis of a polymorphic (CCTTT)_nrepeat of NOS2A in diabetic retinopathy

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Genetic Susceptibility to the Development of Retinopathy in Insulin-dependent Diabetics

Cited by 11 publications

References 0 publications

Maturity‐Onset Diabetes of the Young

Maturity‐Onset Diabetes of the Young

Familial clustering of diabetic retinopathy in South Indian Type 2 diabetic patients

Genotyping and functional analysis of a polymorphic (CCTTT)nrepeat of NOS2A in diabetic retinopathy

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Product

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Genotyping and functional analysis of a polymorphic (CCTTT)_nrepeat of NOS2A in diabetic retinopathy