湖北恩施地区土家族、苗族2型糖尿病与PGC-1基因SNPs相关性研究

Relevant Research of Type 2 Diabetes and PGC-1 Gene SNPs for Tujia and Miao in Hubei Enshi

目的 探讨与分析湖北恩施地区土家族、苗族2型糖尿病与过氧化物酶体增殖物受体γ辅激活因子1（PGC-1）基因SNPs的相关性.方法 选择恩施地区土家族、苗族糖耐量正常人46例,2型糖尿病患者44例为研究对象,采用聚合酶链反应-单链构象多态性（PCR-SSCP）检测IVS2＋52C〉A,SSCP检测出现异常条带样本直接测序,采用PCR扩增后直接检测G1y482Ser,Thr528Thr,Ler577Ser,对其检测结果进行分析比较.结果 NGT组PGC-1基因IVS2＋52C〉A 位点AA基因型频率与T2DM组比较（OR=2.208,95% CI=0.947～5.138,P〈0.05）;T2DM组A等位基因频率虽略高于NGT组,但χ2=2.682,P=0.101〉0.05.两组之间IVS2＋52C〉A,G1y482Ser（G〉A）,Thr528Thr（G〉A）和Ler577Ser等位基因位点的基因型频率及等位基因频率结果分别为χ2=4.117,2.338,2.338和0.967,P=0.128,0.311,0.311和0.325.携带CC基因型的FPG和TG含量,两组经比较t=8.424,3.085,P=0.000,0.003.携带CA基因型的FPG,TG,HDL-C和LDL-C含量,两组经比较t=3.229,3.433,2.339和2.781,P=0.002,0.001,0.022和0.007.携带AA基因型的FPG,TG和HDL-C含量,两组经比较t=10.457,3.135和3.242,P=0.000,0.002和0.002.结论 PGC-1基因IVS2＋52C〉A多态位点的AA型可能是恩施地区发病易感位点,但G1y482Ser和Thr528Thr则与T2DM发病无关.PGC-1基因IVS2＋52C〉A位点突变可能会影响体内糖、BMI及脂代谢.

Objective To explore analysing Hubei Enshi Tuiia and Miao type 2 diabetes （T2DM） and PGC-1 gene SNPs relevance. Methods Selected Enshi Tujia,Miao glucose tolerance normal person 46 cases,44 cases of patients with T2DM as the research object, using the polymerase chain reaction-single strand conformation polymorphism （PCR-SSCP） detection IVS2 ±52C〉A, SSCP detection. The abnormal bands sample direct sequencing, using thedirect detection of PCR amplification G1y482Ser,Thr528Thr,Ler577Ser. Their test results were analyzed and compared. Results NGT PGC-1 gene IVS2＋52C 〉A bit of AA genotype frequency with T2DM group comparison （OR=2. 208,95% CI=0. 947-5. 138,P〈0.05） ,T2DM group A allele frequency was slightly higher than the NGT group χ^2 = 2. 682, P = 0. 101 〉 0. 05. Between the two groups IVS2＋52C〉A G1y482Ser （G〉A）,Thr528Thr （G〉A） allele genotype and allele frequencies of the sites in Ler577Ser results were χ^2 =4. 117,2. 338,2. 338,0. 967,P=0. 128,0. 311,0. 311,0. 325. Carrying the CC genotype FPG and TG content, the two groups by comparison t = 8.424,3. 085, P = 0. 000,0. 003. Carrying the CA genotype FPG, TG, HDL-C and LDL-C content the two groups by comparison t=3. 229,3. 433,2. 339,2. 781,P=0. 002,0. 001,0. 022,0. 007. Carrying the AA genotype FPG,TG and HDL-C content of the two groups were t=10. 457,3. 135,3. 242,P=0. 000,0. 002,0. 002. Conclusion PGC-1 gene IVS2＋52C〉A polymorphic loci AA genotype would be Enshi area of disease susceptibility loci,the but Gly482Ser and Thr528Thr had nothing to do with T2DM incidence. PGC-1 gene IVS2 ＋52 C〉 A point mutation may affect the body sugar,BMI and lipid metabolism.