Promoter polymorphisms of the pigment epithelium-derived factor gene are associated with diabetic retinopathy

Pigment epithelium-derived factor (PEDF or SERPINF1), a neuroprotective and anti-angiogenic factor, may play an important role in the pathogenesis of diabetic retinopathy (DR). In 416 patients with type 2 diabetes, four polymorphisms in the PEDF SNPs were identified, rs12150053 and rs12948385 in the...

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Bibliographic Details
Published in:Biochemical and biophysical research communications 2007-09, Vol.361 (2), p.421-426
Main Authors: Iizuka, Hiroyuki, Awata, Takuya, Osaki, Masataka, Neda, Tamotsu, Kurihara, Susumu, Inoue, Kiyoaki, Inukai, Kouichi, Kabasawa, Sho, Mori, Keisuke, Yoneya, Shin, Katayama, Shigehiro
Format: Article
Language:English
Subjects:
Adolescent
Adult
Aged
Aged, 80 and over
Case-Control Studies
Diabetic macular edema
Diabetic retinopathy
Diabetic Retinopathy - genetics
Eye Proteins - genetics
Female
Genetic Predisposition to Disease
Haplotypes
Humans
Interaction
Linkage Disequilibrium - genetics
Logistic Models
Male
Middle Aged
Nerve Growth Factors - genetics
Pigment epithelium-derived factor gene
Polymorphism, Single Nucleotide - genetics
Promoter Regions, Genetic - genetics
Serpins - genetics
Vascular endothelial growth factor
Vascular Endothelial Growth Factor A - genetics
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Summary:Pigment epithelium-derived factor (PEDF or SERPINF1), a neuroprotective and anti-angiogenic factor, may play an important role in the pathogenesis of diabetic retinopathy (DR). In 416 patients with type 2 diabetes, four polymorphisms in the PEDF SNPs were identified, rs12150053 and rs12948385 in the promoter region, rs9913583 in the 5′-untranslated region, and rs1136287 (Met72Thr) in exon 3. Based on case-control studies, rs12150053 and rs12948385, but not rs9913583 and rs1136287, were significantly associated with DR. A logistic regression analysis revealed that the TC or CC genotype of rs12150053 was a significant risk factor for DR (odds ratio 2.40, p=0.0004). The GA or AA genotype of rs12948385 was also a significant risk factor for DR. In addition, a significant interaction between the vascular endothelial growth factor (VEGF) and PEDF SNPs in the susceptibility to DR was found. These results demonstrate that the PEDF gene, in cooperation with the VEGF gene, may contribute to the development of DR.
ISSN:0006-291X
1090-2104
DOI:10.1016/j.bbrc.2007.07.025