Zhang Yi, Zhang Kui-xing, He Xin, Yuan Wen-tao, Wang Gu-liang, Mao Shou-yu, Gao Ping-jin, Huang Wei, Zhu Ding-liang
Rui Jin Hospital, Shanghai Institute of Hypertension, State Key Laboratory of Medical Genomics, Shanghai Key Laboratory of Vascular Biology, Shanghai Second Medical University, Shanghai 200025, China.
Zhonghua Xin Xue Guan Bing Za Zhi. 2005 Jul;33(7):588-91.
To identify single nucleotide polymorphisms (SNP) in the regulatory and coding regions of human kynureninase (KYNU) gene in a hypertensive candidate chromosomal region 2q14-q23 of Han Chinese, and to investigate the relationship between polymorphisms in KYNU and essential hypertension.
The SNPs in the promoter region and exons of the KYNU gene were detected by direct DNA sequencing. Genotyping of the nonsynonymous Lys412Glu (A/G) polymorphism was performed by DHPLC technology in 456 hypertensive patients and 430 normal controls.
Sixteen SNP were identified in the KYNU gene, including 6 in the regulatory region and 2 in the coding region (both of them lead to substitution of amino acid). Significant differences between hypertensive patients and normal controls were observed for the distribution of alleles (chi(2) = 6.693, P = 0.035) and genotypes (chi(2) = 4.188, P = 0.041) of the Lys412Glu polymorphism in all subjects, and for the distribution of alleles in the subgroup of men (chi(2) = 4.424, P = 0.035).
The Lys412Glu polymorphism of the KYNU gene in a hypertensive candidate chromosomal region is associated with essential hypertension in Han Chinese.
在汉族人高血压候选染色体区域2q14 - q23中，鉴定人类犬尿氨酸酶（KYNU）基因调控区和编码区的单核苷酸多态性（SNP），并研究KYNU基因多态性与原发性高血压之间的关系。
采用直接DNA测序法检测KYNU基因启动子区域和外显子中的SNP。应用变性高效液相色谱（DHPLC）技术对456例高血压患者和430例正常对照进行非同义Lys412Glu（A/G）多态性基因分型。
在KYNU基因中鉴定出16个SNP，其中调控区6个，编码区2个（均导致氨基酸替换）。在所有受试者中，Lys412Glu多态性的等位基因分布（χ² = 6.693，P = 0.035）和基因型分布（χ² = 4.188，P = 0.041），以及男性亚组中的等位基因分布，高血压患者与正常对照之间存在显著差异（χ² = 4.424，P = 0.035）。
高血压候选染色体区域中KYNU基因的Lys412Glu多态性与汉族人的原发性高血压相关。
