Key result
A specific combination of two single nucleotide polymorphisms in the catalase gene promoter region was associated with essential hypertension in Caucasians, but not in African Americans.
Why the study?
Do single nucleotide polymorphisms in the catalase gene promoter region influence susceptibility to essential hypertension?
Cohort
Do single nucleotide polymorphisms in the catalase gene promoter region influence susceptibility to essential hypertension?
Genetic variations in the promoter region of the catalase gene may influence susceptibility to essential hypertension in Caucasians but not African Americans, highlighting ethnic differences in genetic risk factors.
Ethnic-specific catalase promoter associations with hypertension should not guide practice; leaves open validation in prospective cohorts.
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.
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Zhou et al. (2005) conducted a cohort in Essential hypertension. Catalase (CAT) gene promoter region SNPs was evaluated on Association with essential hypertension. A specific combination of two single nucleotide polymorphisms in the catalase gene promoter region was associated with essential hypertension in Caucasians, but not in African Americans.