Article type: Research Article
Authors: Zhou, Xiao Feng | Cui, Jing | DeStefano, Anita
L.; | Chazaro, Irmarie; | Farrer, Lindsay
A.; ; | Manolis, Athanasios J. | Gavras, Haralambos | Baldwin, Clinton T.
Affiliations: Center for Human Genetics, Department of Medicine,
Boston University School of Medicine, Boston, MA, USA | Hypertension Section, Boston University School of
Medicine, Boston, MA, USA | Genetics Program, Boston University School of
Medicine, Boston, MA, USA | Department of Neurology, Boston University School of
Medicine, Boston, MA, USA | Department of Biostatistics, Boston University School
of Public Health, Boston, MA, USA | Department of Epidemiology, Boston University School
of Public Health, Boston, MA, USA | Cardiology Division, Tzanion Hospital, Piraeus,
Greece
Note: [] Present address: Dental Research Institute, School of Dentistry,
University of California at Los Angeles, Los Angeles, CA, USA
Note: [] Corresponding author: Clinton T. Baldwin, PhD, Center for Human
Genetics, Boston University School of Medicine, 715 Albany Street, W408,
Boston, MA 02118, USA. Tel.: +1 617 638 7086; Fax: +1 617 638 7092; E-mail:
[email protected]
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.
Keywords: catalase, essential hypertension, SNP, promoter
Journal: Disease Markers, vol. 21, no. 1, pp. 3-7, 2005
Received 23 February 2005
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Accepted 23 February 2005
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Published: 2005
