FTO基因单核苷酸多态性与2型糖尿病发病风险的相关性研究

目的探讨FTO（fatmassandobesityassociated）基因单核苷酸多态性（singlenucleotidepolymorphism，SNP）与中国人群Ⅱ型糖尿病（TypeⅡDiabetesMellitus，T2DM）易感性的关系。方法利用SequenomMassArray。iPLEX系统对238例T2DM患者及239例健康对照的FTO基因单核苷酸多态性位点rs8050136进行基因分型，并对检测结果根据共显性、显性模型、超显性和隐性模型进行x^2检验和非条件Logistic回归分析。结果FTO基因rs8050136位点在病例组和对照组的基因型频率分布差异在显性模型和超显性模型中有显著性（x^2=8．603，P：0．003；x^2=5．428，p=-0．02）。相对CC基因型而言，CA杂合型和CA—AA基因型均能增加T2DM发病的危险陛，（OR=1．751，95％CI：1．129～2．717，P=0．012；0R1．915，95％CI：1．241～2．954，P=0．003）；而磋目间翔塑豁蛳数铆鼬有显著陡差异（x^2=10．614，P=0．001），相对于C位点而言，A位点是T2DM的危险等位位点，（OR=1．933，95％CI：1．298～2．880，P=0．001）。结论FTO基因单核苷酸多态性rs8050136与T2DM的发病风险相关，CA杂合型和CA—AA基因型可显著增加T2DM的发病风险。

The association study between single nucleotide polymorphisms of FTO and susceptibility of T2DM

Objective To evaluate the association between single nucleotide polymorphism （SNP） of FTO （fat mass and obesity associated） and susceptibility of Type 11 Diabetts Mellitus （T2DM）. Methods The single nucleotide polymorphism rs8050136 of FTO was detected via Sequenom MassArray iPLEX System in 238 T2DM patients and 239 healthy controls for the frequencies of their alleles and genotypes. Data were analyzed via Chi-square test and Logistic regression analysis by codominant, dominant, overdominant, and recessive model. Results The frequencies of genotypes of rs8050136 in both dominant and overdominant model shown significant difference in the distribution between T2DM patients and healthy controls （ X^ 2= 8.603, P=- 0.003;x^2= 5.428, P= 0.02）. The odds ration （OR） of CA and AA-CA were 1.751 （95%CI： 1.129-2.717, P=0.012）, and 1.915 （95%CI： 1.241-2.954, P=0.003）, shown significantly increased the risk of developing T2DM in comparison with CC genotype. The frequencies of alleles （C and A） of rs8050136 shown significantly difference （x^2= 10.614, P=- 0.001）. The OR of A was 1.933 （95%CI： 1.298-2.880, P =0.001）, shown that the A allele maybe the risk allele of T2DM in comparison with C allele. Conclusions The CA and CA-AA genotypes of rs8050136 in FTO were associated with increased the risk of T2DM in Chinese population, and the A allele ofrs8050136 were the risk allele of T2DM.