浙东地区汉族人群TCF7L2基因与肾移植后糖尿病的相关性研究

Association of genetic polymorphisms of transcription factor 7-Like 2 gene and post-transplantation diabetes mellitus in Han Zhejiang population

目的探讨浙东地区汉族人群TCF7L2基因与肾移植后糖尿病（PTDM）的相关性。方法应用基因直接测序方法检测糖尿病组（普通糖尿病患者，90例）、非PTDM组（肾移植后未发生PTDM的受者，112例）和PTDM组（肾移植后发生PTDM的受者，68例）的TCF7L2基因多态位点rs7903146和rs290487的基因分型，比较各位点的等位基因和基因型的分布频率，分析其与PTDM的相关性。结果PTDM组中5．1％的rs7903146基因多态位点为T等位基因，非PTDM组中为1．3％（P〈0．05）。PTDM组中，携带rs7903146位点CT／TT基因型者占70．0％，携带CC基因型者占35．8％（P〈0．05）。PTDM组携带rs290487基因CC、CT和TT基因型者分别占14．7％、38．2％和47．1％（P〉0．05）。TCF7L2基因多态位点rs7403146的CT基因型携带者罹患PTDM的风险有所增加（比值比=18．54，95％可信区间=1．21～282．26，P=0．03）。结论TCF7L2基因多态位点rs7903146的CT基因型与肾PTDM的发生具有显著相关性。

Objective To study the relationship between rs290487, rs7903146 of transcription factor 7-Like 2 （TCF7L2） gene and post-transplantation diabetes mellitus in Han Zhejiang population. Method We genotyped two single nucleotide polymorphisms （SNPs） across the TCF7L2 gene in 90 unrelated post-transplantation type 2 diabetes mellitus （PTDM） patients, 112 unrelated non-PTDM patients, and a set of post transplantation diabetes mellitus patients （n = 68）. Genotyping was performed using direct sequencing SNP Genotyping Assays. The association of SNPs with posttransplantation diabetes mellitus was analyzed. Result In this study, there was statistically significant difference in the T allele of TCF7L2. rs7903146 between PTDM group （5.1 %） and non-PTDM group （1.3%） （P〈0. 05）. For rs7903146, the frequencies of genotype C/C, C/T （70.0%） and T/T （35.8%） was statistically significant in PTDM group （P〈0. 05）. For rs290487, the frequencies of genotype C/C, C/T and T/T was 14. 7%, 38. 2% and 47. 1%respectively in PTDM group, P〉 0. 05. The incidence of PTDM was significantly higher in patients with the CT genotype （odds ratio 18.54 [-95% CI 1.21-282. 261, P = 0. 03）. Conclusion With the current sample size, we found that the CT genotype of rs7903146 was significantly associated with post-transplantation diabetes mellitus.