摘要
目的分析汉族人群Klotho基因3个单核苷酸多态性位点(G-395A,F352V,C370S)与几种疾病的相关性。方法选择无亲戚关系的病人161例及正常健康人55例,提取血白细胞基因组DNA,采用等位基因特异性引物PCR技术检测Klotho基因3个SNP位点的基因型,并用SAS统计软件对所得数据进行分析。结果3个位点存在多态性,均出现2种基因型。G-395A与糖尿病有关(P<0.002);F352V与高血压和冠状动脉硬化性心脏病有关(分别为:P=0.0120和P<0.0001);C370S与冠状动脉硬化性心脏病有关(P<0.0001)。G-395A多态性中的AA基因型可能易患高血压,GG基因型可能对患冠状动脉硬化性心脏病,糖尿病有保护性作用。F352V多态性中的VV和FF可能是高血压和冠状动脉硬化性心脏病的易患基因型,而FV基因型具有保护作用,VV基因型可能易患糖尿病。C370S基因型中,CC和SS是冠状动脉硬化性心脏病易患基因型,而CS基因型具有保护作用。结论该研究发现在中国汉族人群中,启动子区G-395A多态性中的AA基因型易患高血压,GG基因型可能对患冠状动脉硬化性心脏病,糖尿病有保护性作用。对于编码区的F-352V和C370S多态性,杂合子对患冠状动脉硬化性心脏病有保护作用。
[Objective] To study the association of three single nucleotide polymorphism （SNPs） site distribution with diseases. [Methods] Unrelated 161 patients and 55 unrelated healthy individuals were chosen and the genomic DNA of leukocytes was extracted from venous blood.Allele-specific primer （ASP） PCR technique was used to detect genotype of the Klotho gene three sites of SNPs and data were analyzed by SAS statistics software. [Resets] Three sites of polymorphisms were demonstrated. Three genotypes were identified respectively. G-395A was associated with diabetes （P 〈0.002）. F352V was associated with hypertension and coronary arteriosclerotic heart disease （respectively P 〈0.05 and P 〈0.0001）. C370S was associated with coronary arteriosclerotic heart disease （P 〈 0.001）. AA genetype of G-395A polymorphism is liable to hypertension; GG genetype was probably protective for diabetes and coronary arteriosclerotic heart disease. VV genetype and FF genetype of F352V polymorphism were liability to hypertension and coronary arteriosclerotic heart disease, FV genetype was probably protective. VV genetype was liable to diabetes. CC genetype and SS genetype of C370S polymorphism were liable to coronary arteriosclerotic heart disease and CS genetype was protective. [Conclusion] AA genetypee of G-395A polymorphism in promotor region is liable to hypertension and GG genetype is probably protective for coronary arteriosclerotic heart disease and diabetes. Heterozygosity of F352V and C370S in coding region is proeteetive for coronary arteriosclerotic heart disease.
出处
《中国现代医学杂志》
CAS
CSCD
北大核心
2008年第9期1174-1178,共5页
China Journal of Modern Medicine
基金
重庆医科大学创新基金项目(No:CX0507)
