title: A haplotype of the catalase gene confers an increased risk of essential hypertension in Chinese Han.
abstract: 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.
authors.affiliation: State Key Laboratory of Genetic Engineering and MOE Key Laboratory of Contemporary Anthropology, School of Life Sciences and Institutes of Biomedical Sciences, Fudan University, Shanghai, People's Republic of China.
authors.forename: Zhimin
authors.initials: Z
authors.lastname: Wang
authors.forename: Yanping
authors.initials: Y
authors.lastname: Li
authors.forename: Beilan
authors.initials: B
authors.lastname: Wang
authors.forename: Yungang
authors.initials: Y
authors.lastname: He
authors.forename: Yi
authors.initials: Y
authors.lastname: Wang
authors.forename: Huifeng
authors.initials: H
authors.lastname: Xi
authors.forename: Yifeng
authors.initials: Y
authors.lastname: Li
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Ying
authors.initials: Y
authors.lastname: Wang
authors.forename: Dingliang
authors.initials: D
authors.lastname: Zhu
authors.forename: Jianzhong
authors.initials: J
authors.lastname: Jin
authors.forename: Wei
authors.initials: W
authors.lastname: Huang
authors.forename: Li
authors.initials: L
authors.lastname: Jin
mesh_terms: D000368:Aged; D000483:Alleles; D001483:Base Sequence; D002374:Catalase / Q000235:genetics*; D002681:China; D005260:Female; D006801:Humans; D006973:Hypertension / Q000208:ethnology / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009154:Mutation; D018384:Oxidative Stress; D017433:Protein Structure, Secondary; D012306:Risk
chemical_list: D002374:Catalase