VEGF Promoter Polymorphism Confers an Increased Risk of Pulmonary Arterial Hypertension in a Chinese Population
Yonsei Medical Journal
;
: 305-311, 2017.
Article
in English
| WPRIM
| ID: wpr-174332
ABSTRACT
PURPOSE:
Evidence on the contribution of genes to the hereditary predisposition to pulmonary arterial hypertension (PAH) is limited. MATERIALS ANDMETHODS:
In this study, we hypothesized that single nucleotide variants in vascular endothelial growth factor (VEGF) gene may alter gene function and expression and may be associated with PAH risk. Five putatively functional loci (rs699947C>A and rs833061T>C in the promoter, rs3025040C>T, rs10434G>A and rs3025053G>A in the 3'-UTR) in the VEGF gene were genotyped and analyzed in a retrospective study of 587 patients with PAH and 736 healthy subjects from southern China.RESULTS:
We found that the rs833061T>C polymorphism was significantly associated with PAH risk, while the other single nucleotide polymorphisms were not. Compared to carriers with TT genotype, those with rs833061C variant genotype (CT/CC) had an increased risk of PAH (odds ratio=1.47, 95% confidence interval=1.18–1.83, p=0.001). Functional assays indicated that CT/CC variant genotype had significantly higher mRNA levels of VEGF in peripheral blood mononuclear cells than TT genotype (p=0.021). Luciferase reporter assay indicated that having a C allele conferred a significantly higher transcription activity than that with a T allele.CONCLUSION:
Our findings suggest that the functional polymorphism rs833061T>C in VEGF gene promoter modulates VEGF expression and may be a valuable biomarker for predicting PAH susceptibility.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
RNA, Messenger
/
China
/
Retrospective Studies
/
Polymorphism, Single Nucleotide
/
Vascular Endothelial Growth Factor A
/
Asian People
/
Alleles
/
Healthy Volunteers
/
Genotype
/
Hypertension
Type of study:
Etiology study
/
Observational study
/
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Yonsei Medical Journal
Year:
2017
Type:
Article
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