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  Polymorphisms in the promoter region of catalase gene and essential hypertension
 
 
Titel: Polymorphisms in the promoter region of catalase gene and essential hypertension
Auteur: Xiao Feng Zhou
Jing Cui
Anita L. DeStefano
Irmarie Chazaro
Lindsay A. Farrer
Athanasios J. Manolis
Haralambos Gavras
Clinton T. Baldwin
Verschenen in: Disease markers
Paginering: Jaargang 21 (2005) nr. 1 pagina's 3-7
Jaar: 2005-02-24
Inhoud: Genetic variations that predispose individuals to complex disorders, such as essential hypertension, may be found in gene coding regions, intronic regions or in gene promoter regions. Most studies have focused on gene variations that result in amino acid substitutions because they result in different isoforms of the protein, presumably resulting in differences in protein properties. Less attention has been placed on the role of intronic or promoter mutations. In this report, we examined two single nucleotide polymorphisms (SNPs) in the catalase (CAT) gene prompter region in a cohort of hypertensive Caucasians and African Americans with a Mass Spec based Homogenous MassEXTEND assay. We found an association when a specific combination of the two promoter SNPs was examined in Caucasians. No association was observed in African Americans. Our data suggest that genetic variations in the promoter region of catalase gene influence the susceptibility to essential hypertension. In addition, the genetic factors that contribute to hypertension maybe different between ethnic groups.
Uitgever: IOS Press
Bronbestand: Elektronische Wetenschappelijke Tijdschriften
 
 

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