title: Polymorphisms in the promoter region of catalase gene and essential hypertension.
abstract: 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.
authors.affiliation: Center for Human Genetics, Department of Medicine, Boston University School of Medicine, Boston, MA 02118, USA.
authors.forename: Xiao Feng
authors.initials: XF
authors.lastname: Zhou
authors.forename: Jing
authors.initials: J
authors.lastname: Cui
authors.forename: Anita L
authors.initials: AL
authors.lastname: DeStefano
authors.forename: Irmarie
authors.initials: I
authors.lastname: Chazaro
authors.forename: Lindsay A
authors.initials: LA
authors.lastname: Farrer
authors.forename: Athanasios J
authors.initials: AJ
authors.lastname: Manolis
authors.forename: Haralambos
authors.initials: H
authors.lastname: Gavras
authors.forename: Clinton T
authors.initials: CT
authors.lastname: Baldwin
mesh_terms: D000368:Aged; D044383:Black People; D002374:Catalase / Q000235:genetics*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D006239:Haplotypes; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D044465:White People; D001741:Black or African American
chemical_list: D005819:Genetic Markers; D002374:Catalase