Functional Role Of The Single Nucleotide Polymorphism Located At-224 A > G And-599 C > T In Neuropeptide Receptor Y2 (Npy2r) Gene In Predisposition To Hypertension
FASEB JOURNAL(2013)
摘要
Hypertension (HTN) or high blood pressure is a disease that affects one in three adults worldwide. Genetic, environmental and lifestyle factors influenced the risk of having HTN. Previous work in human population have identified genetic variants in the promoter region of the Neuropeptide Y receptor 2 (NPY2R) associated with hypertension. We hypothesized that single nucleotide polymorphism (SNP) in the promoter region of the NPY2R at −224 A>;G and −599 C>;T will affect the expression levels of this gene. To examine this hypothesis the DNA of 16 individuals were amplified to produce two fragments of 1025bp (R3) and 349bp (R4) of the regions of interest in NPY2R. These fragments were inserted into the luciferase reporter system vectors (pGL4.10 and pGL4.23 respectively) and transfected in the HEK 293 cells. Expression levels of the luciferase reporter gene were measured and compared for the different constructs. Our data provided strong evidence that both alleles (−224 A>;G & −599 C>;T) can regulated the level of expression of the promoter in NPY2R. However, the insert containing both SNPs (−599 & −224) appears to exert a greater expression in gene regulation. This may be due to the combination of both SNPs and the influence of the promoter region belonging to NPY2R.
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关键词
neuropeptide receptor y2,hypertension,single nucleotide polymorphism,npy2r
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