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

摘要

Objective To explore analysing Hubei Enshi Tujia and Miao type 2 diabetes (T2DM) and PGC 1 gene SNPs rele vance. 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 Gly482Ser,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 X2 = 2. 682, P= 0. 101 >0. 05. Between the two groups IVS2 + 52OA Gly482Ser (G>A) ,Thr528Thr (G>A) allele genotype and allele frequencies of the sites in Ler577Ser re suits were X2 = 4. 117,2. 338,2. 338,0. 967, P=0. 128,0. 311,0. 311,0. 325. Carrying the CC genotype FPG and TG con tent,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.%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.