摘要
目的探讨转录因子7类似物2基因(TCF7L2)rs7903146位点和rs12255372位点多态性与2型糖尿病的关系。方法选取2015年1月-2017年2月期间于我院内分泌科门诊进行就诊的2型糖尿病患者作为病例组(T2DM组),同期于本院体检中心接受体检的300例健康体检者为健康对照组,提取两组研究对象外周静脉血样本DNA,PCR扩增DNA后采用ABI 3730系列高通量基因分析仪对样本DNA进行测序,比较rs7903146位点和rs12255372位点基因型以及等位基因频率在两组研究对象中的分布差异,及其与2型糖尿病的相关性。结果两组研究对象性别构成、平均年龄等一般资料比较,无统计学差异(P>0.05),而BMI、SP、DP、FBG、2h PG、HbA1C、TG、TC、HDL以及LDL等实验室指标比较,差异具有统计学意义(P<0.05)。此外,rs 7903146位点等位基因频率以及基因型分布在两组具有统计学差异,T2DM组T等位基因频率以及GT基因型频率显著高于对照组(P<0.05),提示rs 7903146位点基因多态性与2型糖尿病发病相关,等位基因T为2型糖尿病的风险等位基因;rs 12255372位点等位基因频率和基因型分布差异无统计学意义,提示rs 12255372位点基因多态性与2型糖尿病不相关。结论 TCF7L2基因rs 7903146位点基因多态性与本地区2型糖尿病发病相关,等位基因T为2型糖尿病的风险等位基因;而rs 12255372位点基因多态性与2型糖尿病发生不相关。
Objective：To investigate the relationship between the polymorphisms of the rs7903146 and rs12255372 loci of the transcription factor 7 analogue 2（TCF7 L2）and type 2 diabetes. Methods：Type 2 diabetes patients were selected as case group（group T2 DM）from January 2015 to February 2017 in Department of endocrinology in our hospital.,at the same time,the hospital medical center for medical examination of 300 cases of healthy people were set as healthy control group,DNA samples were extracted venous blood of two groups of peripheral DNA,after PCR amplification of DNA,the ABI 3730 series high throughput gene analyzer was used to sequence the sample DNA,the distribution of rs7903146 locus and rs12255372 locus genotype and allele frequency in two groups of subjects were compared,and their correlation with type 2 diabetes mellitus.Results：The two groups had no statistical difference in gender composition,average age and other general data（P〉0.05）,while BMI,SP,DP,FBG,2 h PG,Hb A1 C,TG,TC,HDL and LDL had significant difference（P〈0.05）.In addition,the RS 7903146 allele frequency and genotype distribution difference was statistically significant in two groups,T2 DM group,T allele frequency and GT genotype frequency was significantly higher than the control group（P〈0.05）,suggested that RS 7903146 gene polymorphism is associated with the pathogenesis of type 2 diabetes-and T allele for type 2 diabetes risk allele;There was no statistical difference between the allele frequency and genotype distribution of the RS 12255372 loci,suggested that the RS 12255372 locus polymorphism was not related to type 2 diabetes.Conclusion：The polymorphism of TCF7L2RS 7903146 loci is associated with the onset of type 2 diabetes in the region. Allele T is a risk allele of type 2 diabetes,while RS 12255372 loci polymorphism is not associated with type 2 diabetes mellitus.
作者
史南平
李剑
刘佳南
SHI Nan-ping;LI Jian;LIU Jia-nan(Department of Obstetrics,Maternal and Child Health Care Hospital of Shenzhen City,Guangdong 518000;Department of Ultrasound,Guangdong Shenzhen City People＇s Hospital,Shenzhen 518020,China)
出处
《中国优生与遗传杂志》
2018年第8期15-17,共3页
Chinese Journal of Birth Health & Heredity
基金
2015年深圳市卫生计生委重点学科项目(课题编号201506014)
