肌糖原合酶基因多态性与天津地区中老年人2型糖尿病及其合并高血压关系的研究

Study on the Association of the Polymorphism of Muscle Glycogen Synthase Gene with Type 2 Diabetes Mellitus and Complicated with Hypertension in the Middle-aged and Elderly People in Tianjin

目的研究天津地区中老年人群中肌糖原合酶基因(GYS1)内含子14第377bp多态性与2型糖尿病(2型DM)及其合并高血压的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)方法对275例中老年2型DM患者(包括159例合并高血压者)和115例中老年正常对照者的内含子14第377bp进行多态性筛查,并经测序证实。结果在275例2型DM患者(包括159例合并高血压者)中未检出A2等位基因。在115例正常对照者中发现1例A1/A2基因型,没有发现A2/A2基因型,A2等位基因频率为0.0043,A1/A2基因型频率为0.0087,其频率明显低于国内外大多数报道。在2型DM患者和正常对照组之间A2等位基因的频率差别无统计学意义。2型DM合并高血压组与2型DM正常血压组之间A2等位基因频率无差别。结论天津地区中老年人群中GYS1内含子14第377bp多态性可能与2型DM及其合并高血压无关。该多态性可能只是部分种族、部分人群2型DM及高血压的遗传标记。

Objective To study the association of the polymorphism of the 377 base pair of muscle glycogen synthase gene （GYS1） intron 14 with type 2 diabetes mellitus and complicated with hypertension in the middle-aged and elderly people of Tianjin. Methods Using PCR-RFLP technique, the polymorphism site of GYS1 was screened in 275 type 2 diabetes mellitus subjects （including 159 patients with hypertension） and 115 normal controls, and the polymorphism was substantiated by sequencing. Results No A2 allele was found in 275 type 2 diabetes mellitus subjects （including 159 patients with hypertension）. Only one A2 allele was found in 115 normal controls. In the controls, the A2 allele frequency was 0.004 3, the A1/A2 genotype frequency was 0.008 7, and these figures was lower siguificantly than those in most inland or overseas reports. The A2 allele frequencies were similar between type 2 diabetes mellitus patients and normal control subjects. The A2 allele frequencies did not differ between type 2 diabetes mellitus patients with hypertension and patients without hypertension. Conduslons The polymorphism of the 377 sites of GYS1 intron 14 was not associated with type 2 diabetes mellitus and complicated with hypertension in the middle-aged and elderly subjects of Tianjin. This polymorphism may be a genetic marker for type 2 diabetes mellitus and hypertension in some races or populations.