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

AbstractThe p22phox subunit is an essential protein in the activation of NAD(P)H oxidase. Here we report the preliminary characterisation of the human p22phox gene promoter. The p22phox promoter contains TATA and CCAC boxes and Sp1, γ-interferon and nuclear factor κB sites. We screened for mutations in the p22phox 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 −930A/G polymorphism in the p22phox promoter may be a novel genetic marker associated with hypertension