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目的探讨TCF7L2基因多态性与2型糖尿病(T2DM)发病风险的相关性。方法选择合肥地区238例T2DM患者(T2DM组)和93例正常对照者(NC组),提取其外周血DNA。用ABI377测序仪进行测序分型,并用稳态模型评估胰岛素抵抗和胰岛β细胞功能。结果共发现微卫星DG10S478的6个等位基因和7种基因型,等位基因X在T2DM组明显高于NC组,等位基因X的人群特异危险度为1.796%;与非携带等位基因X的人群相比,携带者胰岛素功能指数(HOMA-β)差异有统计学意义(P<0.05)。结论 TCF7L2基因的微卫星(DG10S478)多态性与合肥地区人群T2DM发病风险可能相关,TCF7L2基因可能是通过影响胰岛β细胞功能从而导致糖尿病的发病风险增加。
Objective To investigate the association between TCF7L2 gene polymorphism and the risk of type 2 diabetes mellitus (T2DM). Methods Two hundred and thirty-two T2DM patients (T2DM group) and 93 normal controls (NC group) were selected from Hefei area and their peripheral blood DNA was extracted. Sequencing was performed by ABI377 sequencer, and insulin resistance and islet β-cell function were assessed using a steady-state model. Results Six alleles and seven genotypes of microsatellite DG10S478 were found. The allele X in T2DM group was significantly higher than that in NC group. The specific risk of allele X was 1.796%. Compared with the non-carrying allele (P <0.05). There was a significant difference in HOMA-β among carriers. Conclusion The microsatellite (DG10S478) polymorphism of TCF7L2 gene may be associated with the risk of T2DM in Hefei area. The TCF7L2 gene may increase the risk of diabetes by affecting the function of pancreatic β cells.