Replication Analysis for Severe Diabetic Retinopathy

Grassi, Michael A.; Тихомиров, А. А.; Ramalingam, Sudha; Lee, Kristine E.; Hosseini, S. Mohsen; Klein, Barbara E.K.; Klein, Ronald; Lussier, Yves A.; Cox, Nancy J.; Nicolae, Dan L.

doi:10.1167/iovs.11-8068

Cited by 39 publications

(43 citation statements)

References 27 publications

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“…The third study conducted in 973 cases (subjects with PDR and diabetic macular edema) versus 1856 controls (all others including NPDR) of Caucasian type 1 diabetics found borderline significance at several SNPs/loci with DR in a combined meta-analysis 27 (Table 4). However, a replication analysis conducted on the top signals in the WESDR type 1 diabetic did not confirm these associations 97 . The most recent DR GWAS study, conducted by the authors and colleagues, compared 1007 Chinese type 2 diabetic subjects with “extreme DR phenotype”, defined as 570 individuals with diabetes ≥ 8 years duration without DR (controls) versus 437 individuals with PDR (cases) (Table 4).…”

Section: Genetic Factors For Drmentioning

confidence: 91%

Challenges in Elucidating the Genetics of Diabetic Retinopathy

2014

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Section: Genetic Factors For Drmentioning

confidence: 91%

Challenges in Elucidating the Genetics of Diabetic Retinopathy

2014

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“…Interestingly, AKT3 is a serine/threonine kinase regulating cell survival, insulin signaling and angiogenesis, and has been shown to be activated by platelet-derived growth factor and insulin-like growth factor 1, which have both been implicated in PDR [87]. This association was not replicated in a cohort of type 1 diabetic patients from the Wisconsin Epidemiologic Study of Diabetic Retinopathy but new genetic loci potentially associated with severe DR were identified [88]. The strongest association was at rs4865047, an intronic SNP in the gene CEP125 .…”

Section: Methods Of Literature Reviewmentioning

confidence: 99%

Genetics in Diabetic Retinopathy: Current Concepts and New Insights

Simó‐Servat

Hernández

Simó

2013

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There is emerging evidence which indicates the essential role of genetic factors in the development of diabetic retinopathy (DR). In this regard it should be highlighted that genetic factors account for 25-50% of the risk of developing DR. Therefore, the use of genetic analysis to identify those diabetic patients most prone to developing DR might be useful in designing a more individualized treatment. In this regard, there are three main research strategies: candidate gene studies, linkage studies and Genome-Wide Association Studies (GWAS). In the candidate gene approach, several genes encoding proteins closely related to DR development have been analyzed. The linkage studies analyze shared alleles among family members with DR under the assumption that these predispose to a more aggressive development of DR. Finally, Genome-Wide Association Studies (GWAS) are a new tool involving a massive evaluation of single nucleotide polymorphisms (SNP) in large samples. In this review the available information using these three methodologies is critically analyzed. A genetic approach in order to identify new candidates in the pathogenesis of DR would permit us to design more targeted therapeutic strategies in order to decrease this devastating complication of diabetes. Basic researchers, ophthalmologists, diabetologists and geneticists should work together in order to gain new insights into this issue.

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“…Another genome-wide meta-analysis using Genetics of Kidney in Diabetes (GoKinD) and Epidemiology of Diabetes Intervention and Control Trial (EDIC) samples identified several SNPs at close to a genome-wide level for severe diabetic retinopathy (rs476141, p=1.2×10 ; rs10521145, p=3.4×10 −6 ) [17]. A replication analysis for severe diabetic retinopathy was conducted in a cohort of diabetic individuals from the Wisconsin Epidemiologic Study of Diabetic Retinopathy (WESDR) [18].…”

Section: Introductionmentioning

confidence: 99%

Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes

et al. 2015

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Aims/hypothesis Three recent genome-wide association studies (GWAS) identified several single-nucleotide polymorphisms (SNPs) with modest effects on diabetic retinopathy in Mexican-American and white patients with diabetes. This study aimed to evaluate the effects of these variants on diabetic retinopathy in Chinese patients with type 2 diabetes. Methods A total of 1,972 patients with type 2 diabetes were recruited to this study, including 819 patients with diabetic retinopathy and 1,153 patients with diabetes of ≥5 years duration but without retinopathy. Forty SNPs associated with diabetic retinopathy in three GWAS were genotyped. Fundus photography was performed to diagnose and classify diabetic retinopathy. Results rs17684886 in ZNRF1 and rs599019 near COLEC12 were associated with diabetic retinopathy (OR 0.812, p=0.0039 and OR 0.835, p=0.0116, respectively) and with the severity of diabetic retinopathy (p=0.0365 and p=0.0252, respectively, for trend analysis). Sub-analysis in patients with diabetic retinopathy revealed that rs6427247 near SCYL1BP1 (also known as GORAB) and rs899036 near API5 were associated with severe diabetic retinopathy (OR 1.368, p=0.0333 and OR 0.340, p=0.0005, respectively). The associations between rs6427247 and rs899036 and severe diabetic retinopathy became more evident after a meta-analysis of published GWAS data (OR 1.577, p=2.01×10 −4 for rs6427247; OR 0.330, p=5.84×10 −7 for rs899036). Conclusions/interpretation We determined that rs17684886 and rs599019 are associated with diabetic retinopathy and that rs6427247 and rs899036 are associated with severe diabetic retinopathy in Chinese patients with type 2 diabetes.

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Replication Analysis for Severe Diabetic Retinopathy

Abstract: This study nominates several novel genetic loci that may be associated with severe diabetic retinopathy. In order to confirm these findings, replication and extension in additional cohorts will be necessary as susceptibility alleles for diabetic retinopathy appear to be of modest effect.

Cited by 39 publications

References 27 publications

Challenges in Elucidating the Genetics of Diabetic Retinopathy

Challenges in Elucidating the Genetics of Diabetic Retinopathy

Genetics in Diabetic Retinopathy: Current Concepts and New Insights

Common variants in or near ZNRF1, COLEC12, SCYL1BP1 and API5 are associated with diabetic retinopathy in Chinese patients with type 2 diabetes

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