目的探讨β细胞素基因(BTC)-226A>G多态性与云南省昆明地区糖耐量减低人群的相关性。方法根据口服75 g葡萄糖耐量试验(OGTT)将1 076例云南省昆明地区人群分为糖耐量减低组(IGT)、2型糖尿病组(T2DM)和健康对照组(NGT),用稳态模型法胰岛素抵抗指数(HOMA-IR)、稳态模型法β细胞功能指数(HOMA-β)、早期胰岛素分泌指数(ΔI30/ΔG30)等进行组间比较。同时采集血样后提取基因组DNA,应用高分辨率熔解曲线分析方法(HRM)检测BTC基因-226A>G基因型,观察3组人群中基因型和等位基因的分布情况,同时分析糖耐量减低人群中不同基因型相关临床变量的差异性。结果①BTC基因-226A>GGG基因型及A等位基因在T2DM组中的频率分别为0.133和0.657,在IGT组中为0.085和0.715,差异均无统计学意义(P>0.05);G等位基因在T2DM组中为0.343,在IGT组中为0.285,两组之间差异具有统计学意义(P=0.041)。②IGT组-226位点AA基因型和AG+GG基因型的表型间的空腹血糖(FBG)、空腹胰岛素(Fins)、OGTT 2 h血糖(PBG)、OGTT 2 h胰岛素(PINS)、HOMA-IR、HOMA-β和ΔI30/ΔG30比较差异无统计学意义(P>0.05)。结论 BTC基因-226A>G多态性可能与云南省昆明地区人群糖耐量减低相关,推测含有G等位基因的糖耐量减低人群更易进展为T2DM。 Objective To investigate the association of β-cytosolic (BTC) -226A> G polymorphism with impaired glucose tolerance in Kunming, Yunnan Province. Methods According to the oral glucose tolerance test (OGTT), 1 076 cases of IGT, T2DM and NGT were divided into three groups according to the steady-state model Insulin resistance index (HOMA-IR), steady-state model of β-cell function index (HOMA-β), early insulin secretion index (ΔI30 / ΔG30) were compared between groups. At the same time, the blood samples were collected and the genomic DNA was extracted. The genotype of BTC gene-226A> G was detected by HRM. The distribution of genotypes and alleles in the three groups were observed. In different genotypes of clinical variables related to the difference. Results ① The frequencies of -TCL-226A> GGG genotype and A allele in T2DM group were 0.133 and 0.657 respectively, and there was no significant difference in IGT group (0.085 and 0.715) (P> 0.05); G allele The gene was 0.343 in T2DM group and 0.285 in IGT group, the difference between the two groups was statistically significant (P = 0.041). (2) Fasting plasma glucose (FBG), Fins, OGTT 2 h blood glucose (PBG), OGTT 2 h insulin (PINS), HOMA- IR, HOMA-β and ΔI30 / ΔG30 showed no significant difference (P> 0.05). Conclusion The -226A> G polymorphism of BTC gene may be related to the impaired glucose tolerance in population in Kunming, Yunnan Province. It is speculated that the population with impaired glucose tolerance with G allele is more likely to progress to T2DM.