Hua H, Zhou S, Liu Y, Wang Z, Wan C, Li H, Chen C, Li G, Zeng C, Chen L, Chao L, Chao J
1School of Basic Medicine and Forensic, West China Medical Center, Sichuan University, Chengdu, Sichuan, PR China.
J Hum Hypertens. 2005 Sep;19(9):715-21. doi: 10.1038/sj.jhh.1001875.
Ten alleles with length and nucleotide sequence variations were identified in the regulatory region of human tissue kallikrein gene. This present study aimed to study the polymorphisms of the regulatory region of human tissue kallikrein gene of the Chinese and investigate the relationship of the polymorphisms with essential hypertension. A case-control study was conducted in 200 hypertensive and 200 normotensive subjects of unrelated Chinese Han origin. All subjects were aged from 30 to 70 years and had no history of diabetes mellitus, kidney failure, or thyroid gland disease. The alleles were detected by polymerase chain reaction (PCR) and genotyping was performed with allele-specific oligonucleotide analysis (ASO). Data from the essential hypertensive and control subjects were statistically analysed by the Student's t-test and chi2-test. The age- and gender-matching of the groups were accurate. The case group and the control group were in Hardy-Weinberg equilibrium at this locus (cases, P=0.313; control subjects, P=0.457). There were nine alleles among the case and control groups, and the allele frequencies were found to be significantly different between cases and controls (chi2=25.701, P<0.001). The genotype frequencies were also significantly different (chi2=70.100, P<0.001) between these two groups. In conclusion, there are polymorphisms in the regulatory region of human tissue kallikrein gene in the Chinese Han people. Differences in both allele frequencies and genotype frequencies between these two groups have provided evidence towards the association of hypertension with the polymorphisms in this studied site.
在人类组织激肽释放酶基因的调控区域鉴定出了10个具有长度和核苷酸序列变异的等位基因。本研究旨在研究中国人群人类组织激肽释放酶基因调控区域的多态性，并探讨这些多态性与原发性高血压的关系。对200名原发性高血压患者和200名血压正常的非相关中国汉族受试者进行了病例对照研究。所有受试者年龄在30至70岁之间，无糖尿病、肾衰竭或甲状腺疾病史。通过聚合酶链反应（PCR）检测等位基因，并用等位基因特异性寡核苷酸分析（ASO）进行基因分型。对原发性高血压患者和对照组的数据进行了t检验和卡方检验统计分析。两组在年龄和性别上匹配良好。病例组和对照组在该位点处于哈迪-温伯格平衡（病例组，P = 0.313；对照组，P = 0.457）。病例组和对照组共有9个等位基因，发现病例组和对照组的等位基因频率存在显著差异（卡方 = 25.701，P < 0.001）。两组间的基因型频率也存在显著差异（卡方 = 70.100，P < 0.001）。总之，中国汉族人群人类组织激肽释放酶基因调控区域存在多态性。两组间等位基因频率和基因型频率的差异为高血压与该研究位点多态性的关联提供了证据。
