A polymorphism in the promoter region of catalase is associated with blood pressure levels
A polymorphism in the promoter region of catalase is associated with blood pressure levels
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DOI：
10.1007/s004390100553
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发表时间：
2001-07-01
期刊：
影响因子：
5.3
通讯作者：
Jin, L
中科院分区：
文献类型：
--
作者：
Jiang, ZW;Akey, JM;Jin, L
过氧化氢酶是一种重要的抗氧化酶，其将H2 O2解毒为氧气和水，从而限制活性氧（ROS）的有害作用。由于长期暴露于过量的ROS可能会导致血管损伤，我们调查了过氧化氢酶的遗传变异是否与原发性高血压（EHYT）的易感性在324个人（至少50岁）谁是随机抽样的隔离人群生活在中国祥昌。通过直接测序筛选过氧化氢酶启动子的遗传变异。总共鉴定了四种单核苷酸多态性（SN-Ps）。通过表型选择下的线性回归模型研究SNP与EHYT之间的关联;在我们的分析中，我们使用SBP>150 mmHg和SBP>160 mmHg作为阈值。起始密码子上游844 bp的SNP（SNP-844）显示出与EHYT相关的强有力证据（SBP>150 mmHg：F=5.09，P=0.008; SBP>160 mmHg：F=7.13，P=0.002）。这是第一个研究牵连在EHYT的易感性过氧化氢酶的遗传变异，并表明，启动子区域的多态性可能是特别相关的复杂疾病的研究。
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 (SN-Ps) 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 SBP>150 mmHg and SBP>160 mmHg as thresholds. A SNP 844 bp upstream of the start codon (SNP-844) demonstrated strong evidence of association with EHYT (SBP>150 mmHg: F=5.09, P=0.008; SBP>160 mmHg: F=7.13, P=0.002). 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.