Genome-wide meta-analysis for severe diabetic retinopathy

Grassi, Michael A.; Тихомиров, А. А.; Ramalingam, Sudha; Below, Jennifer E.; Cox, Nancy J.; Nicolae, Dan L.

doi:10.1093/hmg/ddr121

Cited by 147 publications

(174 citation statements)

References 33 publications

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“…Investigating the polymorphisms associated with diabetic retinopathy may help us better understand the developmental pathway of diabetic retinopathy and lead to new targeted therapy in treating diabetes and preventing diabetic retinopathy. [69][70][71] rs6427247 near SCYL1BP1 Unmodifiable Positive rs6427247 near SCYL1BP1 positively associated with increased risk of severe diabetic retinopathy [69][70][71] rs899036 near API5 Unmodifiable Positive rs899036 near API5 positively associated with increased risk of severe diabetic retinopathy [69][70][71] …”

Section: Discussionmentioning

confidence: 99%

“…[4][5][6][7][8]10,19,21,22,24,28,30,34,[38][39][40][42][43][44][47][48][49][50][51][52][53] 69 This is consistent with other genome-wide association studies in Caucasian and Mexican-American patients. 70,71 As the relationship between genetic polymorphisms and diabetic retinopathy is still a new and emerging field, some studies have demonstrated new associations between single nucleotide polymorphisms, but these studies have not yet been replicable. Further studies are thus warranted.…”

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confidence: 99%

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Associations between diabetic retinopathy and systemic risk factors

Wat¹,

Wong²,

Wong³

2016

Hong Kong Med J

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Introduction: Diabetes mellitus is a systemic disease with complications that include sight-threatening diabetic retinopathy. It is essential to understand the risk factors of diabetic retinopathy before effective prevention can be implemented. The aim of this review was to examine the association between diabetic retinopathy and systemic risk factors.Methods: A PubMed literature search was performed up to May 2016 to identify articles reporting associations between diabetic retinopathy and systemic risk factors; only publications written in English were included. Relevant articles were selected and analysed. Results:Patients with diabetic retinopathy were more likely to have poor glycaemic control as reflected by a higher glycated haemoglobin, longer duration of diabetes, and use of insulin therapy for treatment. For other systemic risk factors, hypertension was positively associated with prevalence and progression of diabetic retinopathy. No clear association between obesity, hyperlipidaemia, gender, or smoking with diabetic retinopathy has been established as Associations between diabetic retinopathy and systemic risk factors IntroductionDiabetic retinopathy is the leading cause of blindness in adults living in developed countries. 1 Almost all patients with type 1 diabetes mellitus (DM) and more than 60% of patients with type 2 DM will develop some degree of retinopathy after a 20-year history of diabetes.2 It has also been well established that DM increases the risk of cardiovascular disease. 3Cheng et al 4 found that the prevalence of diabetic retinopathy associated with one, two, three, or four cardiometabolic risk factors was 16.0%, 17.6%, 21.3%, or 25.1%, respectively (P=0.001). This implies a relationship between systemic health conditions and diabetic retinopathy. In order to help identify and to prevent progression of this ophthalmic complication of diabetes, a better understanding of its association with systemic risk factors is necessary. MethodsA PubMed literature search was conducted up to May 2016 using the following key words: "diabetic retinopathy", "prevalence", "epidemiology", "systemic associations", "risk factors", "diabetic Hong Kong Med J 2016;22:589-99

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Section: Discussionmentioning

confidence: 99%

mentioning

confidence: 99%

Associations between diabetic retinopathy and systemic risk factors

Wat¹,

Wong²,

Wong³

2016

Hong Kong Med J

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“…194 In addition, genome-wide association studies have identified several single-nucleotide polymorphisms associated with ESRD in some but not all studies. [195][196][197][198] Prevention of DKD remains challenging. Although microalbuminuria and macroalbuminuria are attractive therapeutic targets for CVD prevention, there are no specific interventions directed at the kidney that prevent DKD.…”

Section: Kidney Diseasementioning

confidence: 99%

Type 1 Diabetes Mellitus and Cardiovascular Disease

Ferranti¹,

Boer²,

Fonseca³

et al. 2014

Circulation

303

126

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“…However, GWAS have been successfully utilized to identify loci associated with extreme phenotypes in a number of complex diseases. [99][100][101][102] As a consequence of the small number of NODAT cases, these results did not reach the conventional threshold for genome-wide significance. As described, the stringent diagnostic criteria were used to generate phenotypic homogeneity with reduced case numbers as a consequence.…”

Section: Strengths and Limitationsmentioning

confidence: 86%

Genetics of New-Onset Diabetes after Transplantation

McCaughan

McKnight²,

Maxwell

2014

Journal of the American Society of Nephrology

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New-onset diabetes after transplantation is a common complication that reduces recipient survival. Research in renal transplant recipients has suggested that pancreatic b-cell dysfunction, as opposed to insulin resistance, may be the key pathologic process. In this study, clinical and genetic factors associated with new-onset diabetes after transplantation were identified in a white population. A joint analysis approach, with an initial genome-wide association study in a subset of cases followed by de novo genotyping in the complete case cohort, was implemented to identify single-nucleotide polymorphisms (SNPs) associated with the development of new-onset diabetes after transplantation. Clinical variables associated with the development of diabetes after renal transplantation included older recipient age, female sex, and percentage weight gain within 12 months of transplantation. The genome-wide association study identified 26 SNPs associated with new-onset diabetes after transplantation; this association was validated for eight SNPs (rs10484821, rs7533125, rs2861484, rs11580170, rs2020902, rs1836882, rs198372, and rs4394754) by de novo genotyping. These associations remained significant after multivariate adjustment for clinical variables. Seven of these SNPs are associated with genes implicated in b-cell apoptosis. These results corroborate recent clinical evidence implicating b-cell dysfunction in the pathophysiology of newonset diabetes after transplantation and support the pursuit of therapeutic strategies to protect b cells in the post-transplant period. One-year graft survival after renal transplantation is now excellent, exceeding 93% for organs donated after brain death and 96% for those from living donors. 1-3 Technical advancements in surgery, improved understanding of immunology, and innovative developments in pharmacology have altered the landscape of renal transplantation. The goal of preventing early graft loss has largely been achieved and arguably the greatest challenge now is the avoidance of late graft failure. Although there has been a considerable improvement in 1-year renal transplant survival, the rate of graft attrition after the first year remains frustratingly constant. 2,4 New-onset diabetes after transplantation (NODAT) is a common and serious disorder that curtails recipient survival. [5][6][7] NODAT is associated with cardiovascular complications [8][9][10][11] and develops in 2%-50% 12 of renal transplant recipients. Approximately 50% of recipients with NODAT require insulin therapy. [6][7][8][13][14][15] A number of clinical variables have been associated with NODAT, including black ethnicity, older recipient age, female sex, obesity, immunosuppression, and viral infections. 5,6,8,13,16,17 Until recently, the pathophysiology of NODAT was considered to be analogous to type 2 diabetes mellitus. Renal transplant recipients have increased insulin resistance compared with transplant-naïve persons with normal renal function. 18 In a nondiabetic renal transplant population, the m...

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Genome-wide meta-analysis for severe diabetic retinopathy

Cited by 147 publications

References 33 publications

Associations between diabetic retinopathy and systemic risk factors

Associations between diabetic retinopathy and systemic risk factors

Type 1 Diabetes Mellitus and Cardiovascular Disease

Genetics of New-Onset Diabetes after Transplantation

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