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A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han
Author(s) -
Wang Zhimin,
Li Yanping,
Wang Beilan,
He Yungang,
Wang Yi,
Xi Huifeng,
Li Yifeng,
Wang Ying,
Wang Ying,
Zhu Dingliang,
Jin Jianzhong,
Huang Wei,
Jin Li
Publication year - 2010
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.21185
Subject(s) - haplotype , biology , allele , genotype , genetics , gene , catalase , odds ratio , promoter , polymorphism (computer science) , essential hypertension , microbiology and biotechnology , oxidative stress , gene expression , medicine , endocrinology , blood pressure
Our previous study in an isolated population showed an association between a genetic variant in the catalase gene (CAT) and essential hypertension (EH). This study indicates that three variants in the promoter and 5′‐UTR region of CAT are predominant in Chinese Han, and they form two major haplotypes. A case–control study showed that the CATH2 haplotype confers susceptibility to EH (Pgenotype=0.0017, and Pallilc=0.00078). Subjects bearing CATH1/CATH2 and CATH2/CATH2 genotypes demonstrated a higher susceptibility to EH than CATH1/CATH1 homozygotes, with odds ratios of 1.474 and 1.625, respectively. Also, CATH1/CATH1 individuals had a later‐onset age ( P =0.015). Expression analysis using luciferase reporter vectors indicated that the CATH1 haplotype showed a lower transcriptional activity than the haplotype CATH2 ( P <0.05 in all four cell lines), and we observed similar results in the endogenous allelic expression ratios of CATH1/CATH2 in cell lines. In contrast, most CATH1 haplotypes showed a higher transcription level than CATH2 haplotypes (10 out of 11 or 90.9%) in blood from normal individuals ( P <0.01). We therefore hypothesize that CATH1 and CATH2 may play alternating roles at different level of oxidative stress. Hum Mutat 31:272–278, 2010. © 2009 Wiley‐Liss, Inc.