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目的:在中国人群中检测血管紧张素Ⅱ2型受体(AT_2R)基 因多态性,并通过病例-对照研究揭示其与原发性高血压(EH)的相关性。方法:通过直接测序的方法,对19个高血压个体进行AT_2R基因的单核苷酸多态性(SNP)检测,250例高血压患者和250例正常对照用于检测AT_2R基因多态性是否与EH相关。结果:在AT_2R基因的启动子、内含子、外显子和3’非编码区共检测到9个SNP,其中5个为首次在中国人群中发现,对启动子区最高频的SNP (1334T/C)进行病例-对照研究,显示C~(1334)等位基因频率在男性高血压患者中(17.5％)明显升高(男性正常对照为10.3％,P<0.05)。结论:中国人群AT_2R基因的SNP目录显示基因变异存在种族差异,AT_2R基因启动子区的1334T/C多态性可能与中国人群EH相关。
Objective: To detect the gene polymorphism of angiotensin Ⅱ type 2 receptor (AT_2R) in Chinese population and to reveal its association with essential hypertension (EH) by case-control study. METHODS: Single nucleotide polymorphisms (SNPs) of AT 2 R gene were detected in 19 hypertensive individuals by direct sequencing. 250 cases of hypertensive patients and 250 normal controls were used to detect whether AT 2 R gene polymorphism EH related. RESULTS: Nine SNPs were detected in promoter, intron, exon and 3 ’non-coding region of AT 2 R gene. Five SNPs were found in Chinese population for the first time. The highest frequency of SNP in promoter region 1334T / C) case-control study showed that the frequency of C ~ (1334) allele was significantly higher in male hypertensive patients (17.5%) than in normal male subjects (10.3%, P <0.05). CONCLUSIONS: The SNP list of AT2R gene in Chinese population shows a racial difference. The 1334T / C polymorphism of AT2R promoter may be related to EH in Chinese population.