Preliminary characterisation of the promoter of the human p22(phox) gene: identification of a new polymorphism associated with hypertension.
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, gamma-interferon and nuclear factor kappaB 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.
Moreno
María U
MU
Division of Cardiovascular Pathophysiology, Centre for Applied Medical Research, School of Medicine, University of Navarra, C/ Irunlarrea 1, 31008 Pamplona, Spain.
San José
Gorka
G
Orbe
Josune
J
Páramo
José A
JA
Beloqui
Oscar
O
Díez
Javier
J
Zalba
Guillermo
G
D024506:5' Flanking Region; D001483:Base Sequence; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D006973:Hypertension / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D026901:Membrane Transport Proteins; D008875:Middle Aged; D008969:Molecular Sequence Data; D009252:NADPH Dehydrogenase / Q000235:genetics*; D019255:NADPH Oxidases; D010750:Phosphoproteins / Q000235:genetics*; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D015533:Transcriptional Activation
D026901:Membrane Transport Proteins; D010750:Phosphoproteins; D019255:NADPH Oxidases; C086986:CYBA protein, human; D009252:NADPH Dehydrogenase