Source:http://linkedlifedata.com/resource/pubmed/id/21441570
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
12
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pubmed:dateCreated |
2011-5-23
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pubmed:abstractText |
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 other diabetic subjects in the cohort. A combined total of 2829 subjects (973 cases, 1856 controls) were studied on 2 543 887 single nucleotide polymorphisms (SNPs). Subjects with nephropathy were excluded in a sub-analysis of 281 severe retinopathy cases. We also performed an association analysis of 1390 copy number variations (CNVs) using tag SNPs. 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 SNP, rs476141, on chromosome 1 (P-value 1.2 × 10(-7)). The most interesting signal from the CNV analysis came from the sub-group analysis without nephropathy subjects and is rs10521145 (P-value 3.4 × 10(-6)) in the intron of CCDC101, a histone acetyltransferase. This SNP tags the copy number region CNVR6685.1 on chromosome 16 at 28.5 Mb, 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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pubmed:grant | |
pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Jun
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pubmed:issn |
1460-2083
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pubmed:author | |
pubmed:issnType |
Electronic
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pubmed:day |
15
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pubmed:volume |
20
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
2472-81
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pubmed:meshHeading |
pubmed-meshheading:21441570-Cohort Studies,
pubmed-meshheading:21441570-DNA Copy Number Variations,
pubmed-meshheading:21441570-Diabetes Mellitus, Type 1,
pubmed-meshheading:21441570-Diabetic Retinopathy,
pubmed-meshheading:21441570-Genetic Loci,
pubmed-meshheading:21441570-Genetic Predisposition to Disease,
pubmed-meshheading:21441570-Genome-Wide Association Study,
pubmed-meshheading:21441570-Humans,
pubmed-meshheading:21441570-Phenotype,
pubmed-meshheading:21441570-Polymorphism, Single Nucleotide
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pubmed:year |
2011
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pubmed:articleTitle |
Genome-wide meta-analysis for severe diabetic retinopathy.
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pubmed:affiliation |
Section of Ophthalmology and Visual Science, University of Chicago, 5841 South Maryland Avenue, Chicago, IL 60637, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't,
Meta-Analysis,
Research Support, N.I.H., Extramural
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