摘要
目的探讨瘦素受体(leptin receptor,LR)基因第20外显子基因变异与2型糖尿病(d iabetes m ellitus,DM)和肥胖及血脂的关系。方法采用聚合酶链反应-限制性酶切片段长度多态性(PCR-RFLP)方法,对134例血标本检测了瘦素受体基因第20外显子+3 057位核苷酸基因多态性,并分析其与2型DM及肥胖的关系。结果对75例2型DM病人和59例血糖正常者检测LR基因+3 057位核苷酸G→A的变异频率,总变异频率为82.09%,其中DM组为87.33%,正常对照组为75.42%(P<0.05),OR=2.25。DM患者中AA型频率显著高于对照组,而GA型频率低于对照组,病例组中未见GG型频率(趋势χ2=6.77,P<0.01),按BM I及WHR划分,未见其基因变异与肥胖的关系。AA基因型组甘油三酯、收缩压、舒张压高于GA型组,而高密度脂蛋白低于GA型组(P<0.05)。结论重庆地区存在LR基因第20外显子+3 057位核苷酸基因变异,它可能是该地区人群2型DM的遗传易感标记,A等位基因与2型DM及高血压、高血脂发病有一定的关系。
Objective To explore the relationship between the variation of leptin receptor （LR） gene and type 2 diabetes mellitus （ DM ） , obesity and plasma lipid levels. Methods The variation of LR gene exon 20 was detected by polymerase chain reaction （PCR） and restriction fragment length polymorphism （RFLP） and their relations to type 2 DM and obesity were analyzed. Results The variant frequency at 3 057 nucleotide of G to A transversion was 82.09% for total, 87.33% for DM group, 75.42% for control group. The frequency of AA genotype in DM cases was higher than that in controls, but that of GA genotype was lower, and that of GG in cases did not indicate. According to BMI and WHR level, there was no obvious relationship between gene variations and obesity. There were significant differences between AA genotype and GA genotype about the serum levels of TG, HDL and SBP, DBP. Conclusion At nucleotide 3 057 in LR exon 20, a G to A transversion was found, which may be the susceptibility marker of DM in Chongqing population. An allele was associated with high blood lipid and increased blood pressure.
出处
《第三军医大学学报》
CAS
CSCD
北大核心
2005年第15期1596-1598,共3页
Journal of Third Military Medical University
关键词
2型糖尿病
瘦素受体
基因多态性
type 2 diabetes mellitus
leptin receptor
gene variation
