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Michael A. Grassi, Anna Tikhomirov, Sudha Ramalingam, Jennifer E. Below, Nancy J. Cox, Dan L. Nicolae; SNP and Copy Number Variation in Severe Diabetic Retinopathy. Invest. Ophthalmol. Vis. Sci. 2011;52(14):2098.
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© ARVO (1962-2015); The Authors (2016-present)
Diabetic retinopathy is a leading cause of blindness. The purpose of this study is to identify novel genetic loci associated with the sight threatening complications of diabetic retinopathy.
We performed a meta-analysis of genome-wide association data for severe diabetic retinopathy as defined by diabetic macular edema or proliferative diabetic retinopathy in unrelated cases ascertained from two large, type I diabetic cohorts: the Genetics of Kidney in Diabetes (GoKinD) and the Epidemiology of Diabetes Intervention and Control Trial (EDIC) studies. Controls were all other diabetic subjects in the cohort. A combined total of 2871 subjects (973 cases, 1898 controls) were studied on 2,543,887 SNPs. We also performed an association analysis of 1390 copy number variations (CNV).
No associations were significant at a genome-wide level after correcting for multiple measures. The meta-analysis did identify several associations that can be pursued in future replication studies including an intergenic single nucleotide polymorphism (SNP), rs476141, on chromosome 1 (p-value 1.18x10-7). The most interesting signal from the CNV analysis was rs10521145 (p-value 3.43x10-6) in the intron of CCDC101, a histone acetyltransferase. This SNP tags the copy number region CNVR6685.1 on chromosome 16 at 28.5Mb, a gain/loss site.
In summary, this study nominates several novel genetic loci associated with the sight threatening complications of diabetic retinopathy and anticipates future large-scale consortium based validation studies.
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