Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/57584
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Type: Journal article
Title: Common sequence variation in the VEGFA gene predicts risk of diabetic retinopathy
Author: Abhary, S.
Burdon, K.
Gupta, A.
Lake, S.
Selva-Nayagam, D.
Petrovsky, N.
Craig, J.
Citation: Investigative Ophthalmology & Visual Science, 2009; 50(12):5552-5558
Publisher: Assoc Research Vision Ophthalmology Inc
Issue Date: 2009
ISSN: 0146-0404
1552-5783
Statement of
Responsibility: 
Sotoodeh Abhary, Kathryn P. Burdon, Aanchal Gupta, Stewart Lake, Dinesh Selva, Nikolai Petrovsky and Jamie E. Craig
Abstract: Purpose. Vascular endothelial growth factor (VEGF) is a multifunctional cytokine that plays a role in angiogenesis and microvascular permeability. This study was conducted to determine whether common sequence variation in the VEGFA gene plays a role in the development of diabetic retinopathy (DR). Method. Five hundred fifty-four subjects with diabetes mellitus (DM) including 190 type 1 DM (T1DM) and 364 type 2 DM (T2DM) were recruited. The study group consisted of 235 participants without DR, 158 with nonproliferative DR (NPDR), 132 with proliferative DR (PDR), and 93 with clinically significant macular edema (CSME). Blinding DR was defined as severe NPDR, PDR, or CSME. Fifteen VEGFA tag single-nucleotide polymorphisms (SNPs) were genotyped in all subjects and tested for association with blinding DR. Results. Multiple tag SNPs in the VEGFA gene were associated with blinding DR. After controlling for sex, HbA1c, and duration of disease, in T1DM, the AA genotype of rs699946 (P = 0.007, odds ratio [OR], 4.1; 95% confidence interval [CI], 1.5–11.4) and the GG genotype of rs833068 (P = 0.017, OR, 3.1; 95% CI, 1.3–7.2) were most significantly associated. In T2DM, the C allele of rs3025021 (P = 0.002; OR, 3.8; 95% CI, 1.5–10.0) and the G allele of rs10434 (P = 0.002; OR, 2.6; 95% CI, 1.3–5.3) were most significantly associated with blinding DR. Haplotype analyses suggested an important role for the haplotype TCCGCG in blinding DR (P = 0.0004). Conclusions. Sequence variation in the VEGFA gene is associated with risk of developing blinding DR in T1DM and T2DM. Identifying specific genetic markers will allow for refined screening algorithms and earlier intervention in patients at highest risk.
Keywords: Humans; Blindness; Diabetic Retinopathy; Diabetes Mellitus, Type 1; Diabetes Mellitus, Type 2; Hemoglobin A, Glycosylated; Vascular Endothelial Growth Factor A; Risk Factors; Genotype; Linkage Disequilibrium; Polymorphism, Single Nucleotide; Adult; Middle Aged; Female; Male
Description: © 2009 by The Association for Research in Vision and Ophthalmology, Inc.
RMID: 0020094089
DOI: 10.1167/iovs.09-3694
Appears in Collections:Opthalmology & Visual Sciences publications

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