【摘要】 目的探讨小肠型脂肪酸结合蛋白(FABP2)基因G54A单核苷酸多态性与儿童单纯性肥胖的关系,分析突变型54A FABP2基因对血脂、血糖代谢的影响。方法筛选83例单纯性肥胖儿童和100例正常对照儿童,采用聚合酶链反应(PCR)-限制性片段长度多态性(RFLP)技术,检测各组FABP2基因G54A基因型及等位基因分布频率,并经DNA序列测定确证。采用酶法检测空腹血糖(FBG)、血浆甘油三酯(TG)、总胆固醇(TC)、高密度脂蛋白胆固醇(HDL-C)和低密度脂蛋白胆固醇(LDL-C)水平,放射免疫法测定血浆胰岛素(Ins),ELISA方法测定游离脂肪酸(FFA),计算胰岛素抵抗指数(HOMA-IR)。结果 FABP2基因G54A单核苷酸多态性频率分布为:在超重/肥胖组,G/G、G/A、A/A基因型频率分别为33.7%、49.4%和16.9%;在正常对照组,G/G、G/A、A/A基因型频率分别为51.0%、40.0%和9.0%,差异有统计学意义(χ2=6.27,P<0.05)。超重/肥胖组54G、54A等位基因频率分别为58.4%和41.6%;正常对照组54G、54A等位基因频率分别为71.0%和29.0%,两组等位基因分布频率差异有统计学意义(χ2=6.32,P<0.05)。血浆生化指标结果显示,与正常组相比,超重/肥胖组的血浆TG(P<0.01)、Ins(P<0.05)、HOMA-IR(P<0.05)均升高,差异有统计学意义。同时,在超重/肥胖组,与G/G野生型携带者比较,A/A纯合子突变型携带者血浆TG水平明显升高(P<0.05),血浆Ins、FFA水平和HOMA-IR虽有升高,但差异无统计学意义。结论 FABP2基因G54A多态性与儿童单纯性肥胖发生及其脂类代谢异常有关,54A等位基因可能是促进脂代谢异常和胰岛素抵抗进程的一个潜在因素。更多还原

【Abstract】 Objective To explore the relationship between intestinal fatty acid binding protein( FABP2) gene G54 A polymorphism and simple childhood obesity,the effect of mutant 54 A FABP2 gene on serum lipids and glucose metabolism. Methods The total of 83 subjects with overweight / obesity and 100 subjects with healthy / normal weight were involved in this study. The G54 A FABP2 gene allele and genotype frequencies between control group and overweight / obesity group were detected usingpolymerase chain reaction( PCR)-restriction fragment length polymorphism( RFLP)technology,and DNA sequences were confirmed by DNA sequencing. The automatic biochemical analyzer was used to detect fasting blood glucose( FBG),triglyceride( TG),total cholesterol( TC),high-density lipoprotein cholesterol( HDL-C) and low-density lipoprotein cholesterol( LDL-C) levels. Plasma insulin( Ins) was detected by radiation immune method,free fatty acids( FFA) was tested by ELISA method,insulin resistance index( HOMA-IR) was also calculated. The correlation between FABP2 G54 A polymorphism and the development of children’ obesity was analyzed. The relation between FABP2 G54 A polymorphism and abnormal blood lipid and insulin resistance was assessed. Results The results of study on FABP2 gene polymorphism revealed as followed. In overweight / obese groups,the frequencies of GG,GA,AA genotypes was33. 7%,49. 4% and 16. 9%,respectively. In control group,the frequencies of GG,GA,AA genotypes was 51. 0%,40. 0% and 9. 0%,respectively. The differences between two groups was statistically significant( χ2= 6. 27,P < 0. 05). In overweight / obesity group,the frequencies of alleles were 58. 4% for 54 G and 41. 6% for 54 A. In control group,the frequencies of alleles were 71. 0% for 54 G and 29. 0% for 54 A. There was significant differences( χ2= 6. 32,P < 0. 05). The plasma biochemical variables results showed that compared with the normal control group,plasma TG( P < 0. 01),Ins( P < 0. 05),HOMA-IR( P < 0. 05) were elevated in overweight / obesity group,the difference between two groups was statistically significant. At the same time,in overweight / obesity group,the carriers of AA homozygous genotypes had significantly higher plasma TG levels than those with GG wild genotypes( P < 0. 05). A increased tendency of plasma Ins,FFA levels and HOMA-IR was found in the carriers with AA homozygous genotypes,but no differences compared with those with GG wild genotypes. Compared with those with GG wild genotypes,related plasma biochemical variables in the carriers with GA heterozygous genotypes had no differences( P > 0. 05). Conclusion The FABP2 gene G54 A polymorphism is related to simple children obesity and lipid metabolism abnormality. The allele encoding in FABP2 gene may be a potential factor contributing to promoting lipid metabolism abnormality of and insulin resistance.更多还原