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目的检测中国汉族人群高血压病定位区域2q14-q23内犬尿氨酸酶基因(kynureninase,KYNU)调控区和编码区的单核苷酸多态性(singlenucleotidepolymorphism,SNP)及与高血压病的相关性。方法采用直接测序法检测KYNU基因启动子区和外显子序列中的SNP。应用变性高效液相色谱分析(DHPLC)技术对位于编码区且改变氨基酸编码的Lys412Glu(A/G)多态在456例高血压病患者和430例正常对照者中进行分型和关联研究。结果共检测得KYNU基因的16个SNP,其中启动子区6个,编码区2个(均改变氨基酸编码)。Lys412Glu多态基因型分布(χ2=6·693,P=0·035)和等位基因频率分布(χ2=4·188,P=0·041)在高血压病组和正常对照组间差异均有统计学意义,Lys412Glu等位基因频率分布在男性高血压病组和正常对照组间差异有统计学意义(χ2=4·424,P=0·035)。结论中国汉族高血压病定位区域内KYNU基因Lys412Glu多态可能与高血压病相关。
Objective To detect single nucleotide polymorphism (SNP) of kynureninase (KYNU) regulatory region and coding region of 2q14-q23 in the localization of hypertension in Chinese Han population and its relationship with hypertension Sex. Methods The SNPs in the promoter region and exon of KYNU gene were detected by direct sequencing. The Lys412Glu (A / G) polymorphism, located in the coding region and changing the amino acid coding, was genotyped and correlated in 456 hypertensive patients and 430 normal controls by denaturing high performance liquid chromatography (DHPLC). Results A total of 16 SNPs were detected in the KYNU gene, of which 6 were in the promoter region and 2 in the coding region (all of which were encoded by amino acids). The distribution of Lys412Glu polymorphism (χ2 = 6 · 693, P = 0 · 035) and allele frequency distribution (χ2 = 4.188, P = 0.041) were significantly different between hypertensive group and normal control group There was statistical significance. The frequency distribution of Lys412Glu allele had statistical significance between male hypertension group and normal control group (χ2 = 4.24, P = 0.035). Conclusions The Lys412Glu polymorphism of KYNU gene may be associated with hypertension in the localization of Hypertension in Chinese Han.