PMID- 10930302
OWN - NLM
STAT- MEDLINE
DCOM- 20000914
LR  - 20220331
IS  - 1043-4666 (Print)
IS  - 1043-4666 (Linking)
VI  - 12
IP  - 8
DP  - 2000 Aug
TI  - Identification of polymorphisms within the vascular endothelial growth factor 
      (VEGF) gene: correlation with variation in VEGF protein production.
PG  - 1232-5
AB  - Dysregulated vascular endothelial growth factor (VEGF) expression has been 
      implicated as a major contributor to the development of a number of common 
      disease pathologies. The aim of this study was to establish the extent of genetic 
      variability within the VEGF gene and to determine whether this genetic variation 
      influenced levels of VEGF protein expression. The promoter region and exon 1 of 
      the VEGF gene were screened for polymorphisms using single-stranded conformation 
      (SSCP) polymorphism analysis and direct PCR-sequencing. We identified 15 novel 
      sequence polymorphisms most of which were rare. Eleven of these polymorphisms 
      were single base substitutions, three were single base insertions and one was a 
      two base deletion. Thirteen of the polymorphisms were located within the promoter 
      and two in the 5' untranslated region (5'UTR) of the gene. We established 
      PCR-RFLP typing systems for ten of the polymorphisms. For the two common 
      polymorphisms at -460 and +405, we developed a combined sequence specific priming 
      (SSP) PCR typing system to determine the cis/trans orientation of each allele and 
      hence, ascertain haplotypes. A significant correlation was observed between 
      lipopolysaccharide (LPS) stimulated peripheral blood mononuclear cell (PBMC) VEGF 
      protein production and genotype for the +405 polymorphism.
CI  - Copyright 2000 Academic Press.
FAU - Watson, C J
AU  - Watson CJ
AD  - Department of Medicine, Manchester University, Manchester, M13 9PT, UK.
FAU - Webb, N J
AU  - Webb NJ
FAU - Bottomley, M J
AU  - Bottomley MJ
FAU - Brenchley, P E
AU  - Brenchley PE
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Cytokine
JT  - Cytokine
JID - 9005353
RN  - 0 (5' Untranslated Regions)
RN  - 0 (Endothelial Growth Factors)
RN  - 0 (Lymphokines)
RN  - 0 (Vascular Endothelial Growth Factor A)
RN  - 0 (Vascular Endothelial Growth Factors)
SB  - IM
MH  - 5' Untranslated Regions/*genetics
MH  - Endothelial Growth Factors/biosynthesis/*genetics
MH  - Female
MH  - Gene Expression
MH  - Genotype
MH  - Haplotypes
MH  - Humans
MH  - In Vitro Techniques
MH  - Leukocytes, Mononuclear/metabolism
MH  - Lymphokines/biosynthesis/*genetics
MH  - Male
MH  - *Polymorphism, Genetic
MH  - *Promoter Regions, Genetic
MH  - Sex Factors
MH  - Vascular Endothelial Growth Factor A
MH  - Vascular Endothelial Growth Factors
EDAT- 2000/08/10 11:00
MHDA- 2000/09/19 11:01
CRDT- 2000/08/10 11:00
PHST- 2000/08/10 11:00 [pubmed]
PHST- 2000/09/19 11:01 [medline]
PHST- 2000/08/10 11:00 [entrez]
AID - S1043-4666(00)90692-6 [pii]
AID - 10.1006/cyto.2000.0692 [doi]
PST - ppublish
SO  - Cytokine. 2000 Aug;12(8):1232-5. doi: 10.1006/cyto.2000.0692.