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Title of Journal: Hum Genet

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Abbravation: Human Genetics

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Springer-Verlag

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DOI

10.1007/s004390100553

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1432-1203

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A polymorphism in the promoter region of catalase

Authors: Zhengwen Jiang Joshua M Akey Jinxiu Shi Momiao Xiong Ying Wang Yayun Shen Xiaoyun Xu Hua Chen Hong Wu Junhua Xiao Daru Lu Wei Huang Li Jin
Publish Date: 2014/02/12
Volume: 109, Issue: 1, Pages: 95-98
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Abstract

Catalase is an important antioxidant enzyme that detoxifies H2O2 into oxygen and water and thus limits the deleterious effects of reactive oxygen species ROS Because chronic exposure to excess ROS may contribute to vascular damage we investigated whether genetic variation in catalase was associated with susceptibility to essential hypertension EHYT in 324 individuals at least 50 years old who were randomly sampled from an isolated population living in Xiangchang China They were screened for genetic variation in the promoter of catalase by direct sequencing In total four single nucleotide polymorphisms SNPs were identified The association between the SNPs and EHYT was investigated by a linear regression model under phenotypic selection in our analyses we used both SBP150 mmHg and SBP160 mmHg as thresholds A SNP 844 bp upstream of the start codon SNP844 demonstrated strong evidence of association with EHYT SBP150 mmHg F=509 P=0008 SBP160 mmHg F=713 P=0002 This is the first study to implicate genetic variation in catalase in susceptibility to EHYT and suggests that polymorphisms in promoter regions may be particularly relevant to the study of complex diseases

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