TCF7L2基因rs7903146位点多态性与2型糖尿病胰岛β细胞早相功能的相关性

THE ASSOCIATION OF TRANSCRIPTION FACTOR 7-LIKE 2 POLYMORPHISMS WITH THE EARLY PHASE FUNCTION OF β-CELL IN TYPE 2 DIABETES MELLITUS

目的探讨TCF7L2基因rs7903146位点单核苷酸多态性与青岛2型糖尿病病人胰岛β细胞早相功能的相关性。方法应用限制性片段长度多态性（RFLP）方法,对213例青岛及周边地区汉族人（其中2型糖尿病病人99例、正常对照114例）的TCF7L2基因rs7903146位点进行基因分型;用左旋精氨酸兴奋实验测定胰岛β细胞早相功能。结果 2型糖尿病组rs7903146位点的CT基因型和T基因频率均明显高于正常对照组（χ2=4.678、4.507,P〈0.05）,其中有家族史的2型糖尿病病人的CT基因型和T基因频率明显高于正常对照组（χ2=4.896、4.739,P〈0.05）,而无家族史组和正常对照组比较差异无显著性（P〉0.05）,有家族史和无家族史组之间比较也无统计学差异（P〉0.05）;CT比CC基因型患2型糖尿病的危险度显著增加（OR=3.28,95%CI为1.026~10.459,P〈0.05）。rs7903146位点CC和CT基因型的胰岛β细胞早相功能差异无显著性（P〉0.05）。结论 TCF7L2基因rs7903146位点多态性与2型糖尿病发病风险有关,该位点多态性与胰岛β细胞早相分泌功能关联性不强。

ObjectiveTo study the association of rs7903146 single nucleotide polymorphism（SNP） of transcription factor 7-like 2（TCF7L2） with the early function of pancreatic β-cells in type 2 diabetes mellitus（T2DM） patients in Qingdao.MethodsThe rs7903146 locus of TCF7L2 gene was genotyped in 213 Han people in Qingdao areas（99 patients with T2DM and 114 normal subjects） with PCR-restriction fragment length polymorphism（PCR-RFLP）.The early phase function of β-cell was detected with L-arginine（L-ARG） stimulation test.ResultsCT genotype and T allele frequency of rs7903146 locus were significantly higher in T2DM group than those in the control（χ2=4.678,4.507;P0.05）,of which those with a family history showed significantly higher CT genotype and T allele frequency than in the control group（χ2=4.896,4.739;P0.05）,while those with no family history showed no significant differences in CT genotype and T allele frequency compared with normal control group（P0.05）.There were no significant differences in CT genotype and T allele frequency between patients with and without family histories（P0.05）.CT genotype significantly increased the risk of getting T2DM compared with CC genotype（OR=3.28,95%CI：1.026-10.459,P0.05）.The early phase function of β-cell in both CC and CT genotypes of rs7903146 locus showed no significant differences（P0.05）.ConclusionThe rs7903146 polymorphism of TCF7L2 gene is associated with the risk of getting type 2 diabetes mellitus,but not closely associated with the early phase function of pancreatic β-cells.