Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes

Awata, Takuya; Kurihara, Susumu; Takata, Nobuki; Neda, Tamotsu; Iizuka, Hiroyuki; Ohkubo, Tomoko; Osaki, Masataka; Watanabe, Masaki; Nakashima, Youhei; Inukai, Kouichi; Inoue, Ituro; Kawasaki, Izumi; Mori, Keisuke; Yoneya, Shin; Katayama, Shigehiro

doi:10.1016/j.bbrc.2005.05.167

Cited by 118 publications

(99 citation statements)

References 18 publications

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“…14 Two SNPs (positions 2578 and 1154) are located in VEGF promoter which are relative to the VEGF transcription start site, 15 and one SNP (position À634) in 5 0 -UTR that affects VEGF expression at both transcription and translation levels. 16 Taken together, these results indicated VEGF was involved in the development of endocardial cushion and outflow septum. Malalignment of the three septal components (the outflow septum, the ventricular septum and atrioventricular endocardial cushion tissue) could cause a VSD in the perimembranous region.…”

Section: Introductionmentioning

confidence: 82%

VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies

Xie

et al. 2007

Eur J Hum Genet

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The ventricular septal defect (VSD) is the most common congenital heart defect and no candidate susceptibility gene has been identified. Endocardial cushion and outflow septal morphogenesis, malalignment of which induces VSD, have been suggested to be mediated by the vascular endothelial growth factor (VEGF). Three single-nucleotide polymorphism (SNP) variants in promoter and 5 0 -UTR region of the VEGF gene, CÀ2578A (rs699947), GÀ1154A (rs1570360) and GÀ634C (rs2010963), were reported to alter its expression. We assessed the association in a Chinese population between these SNPs and VSD using a double approach: case-control and TDT designs. Among the three SNPs, only À634C allele was less frequently present in 222 patients compared to 352 controls (odds ratio: 0.76, 95% CI: 0.59 -0.97, X 2 ¼ 5.06, P ¼ 0.024, not significant after a Bonferroni correction). This was significantly less transmitted to VSD patients (trios: 142) (odds ratio: 0.39, 95% CI: 0.25-0.62, X 2 ¼ 8.11, df ¼ 1, P ¼ 0.004, corrected P ¼ 0.024). A similar result was observed for haplotype À2578C/À1154G/À634C allele in both studies (in TDT: X 2 ¼ 7.51, df ¼ 1, P ¼ 0.006, corrected P ¼ 0.048). All these associations for the first time demonstrated that -634C allele was in a significant protective association against VSD, suggesting that VEGF dysregulation was involved in the pathological processes of VSD.

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Section: Introductionmentioning

confidence: 82%

VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies

Xie

et al. 2007

Eur J Hum Genet

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“…Clinical studies have shown that the VEGF SNP -2578A and -1154A alleles decrease VEGF expression, but VEGF -634G>C SNP has been correlated with a weak ability for VEGF production (Watson et al, 2000;Awata et al, 2002;Niinimäki et al, 2009). Awata et al (2005) proposed that the VEGF -634C allele is associated with increased transcription levels of VEGF, whereas Lambrechts et al (2005) reported that VEGF -634G is associated with lower VEGF expression. However, our study was limited in this respect, since we did not measure VEGF levels to show the association between them and the development of IVD degeneration.…”

Section: Discussionmentioning

confidence: 99%

“…Disc cells depend on the blood supply from the capillaries at their margins to supply nutrients and remove metabolic waste. Therefore, blood flow disturbance in the IVD has been proposed to play a role as a causative factor in the IVD degeneration (Nachemson et al, 1970;Buckwalter, 1995;Urban et al, 2004;Awata et al, 2005;Niinimäki et al, 2009;Shi et al, 2011). The lumbar IVD is mostly supplied by the capillaries of lumbar arteries feeding the vertebral endplates, and the blood supply can be disturbed by lumbar arteries narrowing due to atherosclerosis or by occlusion of endplate openings due to morphological changes (Kurunlahti et al, 1999(Kurunlahti et al, , 2001Benneker et al, 2005;Moore, 2006;Niinimäki et al, 2009;Kauppila, 2009;Wang and Griffith, 2011).…”

Section: Introductionmentioning

confidence: 99%

Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population

Han¹,

Ropper²,

Teng³

et al. 2013

Genet. Mol. Res.

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“…retinopathy (2,19). Awata et al showed that the genotype distribution of the C(-634)G polymorphism differed significantly between patients with and without retinopathy (2).…”

Section: Discussionmentioning

confidence: 99%

Predictive factors for the occurrence of idiopathic menorrhagia: Evidence for a hereditary trait

2011

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Abstract. The aim of the present study was to assess predictive factors for occurrence of idiopathic menorrhagia (IM), a disease characterized by abnormal endometrial blood vessel morphology. It was hypothesized that IM exhibits familial clustering (suggesting inheritance) and is associated with other vascular abnormalities, primarily cutaneous hemangiomas. Women with IM (n=152) and healthy, regularly menstruating (n=56) women answered a questionnaire concerning menstrual pattern, susceptibility to bleeding and family history of abnormal gynecological bleeding. Factor analysis with principal component extraction was used to separate predictive factors that may be associated with IM. A total of 35 different items were analyzed. A strong association was found between IM and a family history of heavy menstrual bleeding (r=0.68), but not with cutaneous vascular abnormalities. Our results revealed that a family history of heavy menstrual bleeding may have the highest predictive value for the diagnosis of IM, indicating a hereditary trait.

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Functional VEGF C-634G polymorphism is associated with development of diabetic macular edema and correlated with macular retinal thickness in type 2 diabetes

Cited by 118 publications

References 18 publications

VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies

VEGF C−634G polymorphism is associated with protection from isolated ventricular septal defect: case–control and TDT studies

Association between VEGF and eNOS gene polymorphisms and lumbar disc degeneration in a young Korean population

Predictive factors for the occurrence of idiopathic menorrhagia: Evidence for a hereditary trait

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