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Disease Markers
Volume 21 (2005), Issue 1, Pages 3-7
http://dx.doi.org/10.1155/2005/487014

Polymorphisms in the Promoter Region of Catalase Gene and Essential Hypertension

Xiao Feng Zhou,1 Jing Cui,2 Anita L. DeStefano,4,5 Irmarie Chazaro,2,5 Lindsay A. Farrer,3,4,6 Athanasios J. Manolis,7 Haralambos Gavras,2 and Clinton T. Baldwin1

1Center for Human Genetics, Department of Medicine, Boston University School of Medicine, Boston, MA, USA
2Hypertension Section, Boston University School of Medicine, Boston, MA, USA
3Genetics Program, Boston University School of Medicine, Boston, MA, USA
4Department of Neurology, Boston University School of Medicine, Boston, MA, USA
5Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA
6Department of Epidemiology, Boston University School of Public Health, Boston, MA, USA
7Cardiology Division, Tzanion Hospital, Piraeus, Greece

Received 23 February 2005; Accepted 23 February 2005

Copyright © 2005 Hindawi Publishing Corporation. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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.