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目的:研究血管紧张素II 1型受体(angiotensin II type 1 receptor,AT1R)基因多态性与新疆哈萨克族原发性高血压的关系。方法:对348名新疆哈萨克族(其中原发性高血压患者193例,正常对照155例),采用聚合酶链反应和限制性片段长度多态性方法对AT1R基因T573C多态性进行基因分型,比较不同基因型及等位基因频率在EH组和对照组中的分布。结果:TT、TC和CC基因型在EH组中的频率为0.6269,0.3575和0.0155,在对照组中的分别为0.5032,0.4323和0.0645,两者基因型分布存在差异(χ2=9.049,P=0.011)。在EH组中T573等位基因频率为0.8057,C573等位基因频率为0.1943,对照组中T、C等位基因频率分别为0.7194和0.2806,T等位基因频率在高血压组分布高,差异具有统计学意义(χ2=7.18,P=0.007)。结论:T573等位基因可能是哈萨克族高血压发生的易感基因。携带T573T基因型和T573C基因型新疆哈萨克族可能更易患高血压。
Objective: To study the relationship between angiotensin II type 1 receptor (AT1R) gene polymorphism and essential hypertension in Kazakh in Xinjiang. Methods: The genotypes of T573C polymorphism of AT1R gene were genotyped by polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP) in 348 Xinjiang Kazakans (193 cases with essential hypertension and 155 normal controls) , The distribution of different genotypes and allele frequencies in EH group and control group were compared. Results: The frequencies of TT, TC and CC genotypes in EH group were 0.6269,0.3575 and 0.0155, respectively, which were 0.5032, 0.4323 and 0.0645 respectively in the control group (χ2 = 9.049, P = 0.011) ). In EH group, the frequency of T573 allele was 0.8057 and the frequency of C573 allele was 0.1943. The frequencies of T and C alleles in control group were 0.7194 and 0.2806, respectively. The frequency of T allele in hypertensive group was higher than that in control group Statistical significance (χ2 = 7.18, P = 0.007). Conclusion: The T573 allele may be a susceptible gene to Kazakh hypertension. Kazakhs carrying T573T genotype and T573C genotype may be more susceptible to hypertension.