Preliminary characterisation of the promoter of the human p22phox gene: identification of a new polymorphism associated with hypertension

FEBS Letters

Orbe, Josune²  Zalba, Guillermo²  Páramo, José A²  Moreno, Marı́a U²  Beloqui, Oscar¹  Dı́ez, Javier²  San José, Gorka² 

[1] Department of Internal Medicine, University Clinic, University of Navarra, Pamplona, Spain;Division of Cardiovascular Pathophysiology, Centre for Applied Medical Research, School of Medicine, University of Navarra, C/ Irunlarrea 1, 31008 Pamplona, Spain

关键词: Hypertension;    NAD(P)H oxidase;    Polymorphism;    Promoter;    SHR;    spontaneously hypertensive rat;    PCR;    polymerase chain reaction;    RFLP;    restriction fragment length polymorphism;    NF-κB;    nuclear factor κB;    VSMCs;    vascular smooth muscle cells;   

DOI  :  10.1016/S0014-5793(03)00331-4

学科分类：生物化学/生物物理

来源: John Wiley & Sons Ltd.

【 摘 要 】

The p22^phox subunit is an essential protein in the activation of NAD(P)H oxidase. Here we report the preliminary characterisation of the human p22^phox gene promoter. The p22^phox promoter contains TATA and CCAC boxes and Sp1, γ-interferon and nuclear factor κB sites. We screened for mutations in the p22^phox promoter and identified a new polymorphism, localised at position −930 from the ATG codon, which was associated with hypertension. Mutagenesis experiments showed that the G allele had higher promoter activity than the A allele. These results suggest that the −930^A/G polymorphism in the p22^phox promoter may be a novel genetic marker associated with hypertension.

【 授权许可】

Unknown