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

Authors
  • Iizuka, Hiroyuki
  • Awata, Takuya
  • Osaki, Masataka
  • Neda, Tamotsu
  • Kurihara, Susumu
  • Inoue, Kiyoaki
  • Inukai, Kouichi
  • Kabasawa, Sho
  • Mori, Keisuke
  • Yoneya, Shin
  • Katayama, Shigehiro
Type
Published Article
Journal
Biochemical and Biophysical Research Communications
Publication Date
Jan 01, 2007
Volume
361
Issue
2
Pages
421–426
Identifiers
DOI: 10.1016/j.bbrc.2007.07.025
Source
Elsevier
Keywords
License
Unknown

Abstract

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.

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