瘦素受体3057位基因多态性与2型糖尿病及血脂的关系

Relationship of the polymorphism of leptin receptor gene at 3057 nucleotide with type 2 diabetes mellitus and plasma lipid levels

目的探讨瘦素受体(leptin receptor,LR)基因第20外显子基因多态性与2型糖尿病(diabetes mellitus,DM)及血脂的关系。方法采用PCR-RF-SSCP法,检测130名(其中糖尿病患者68例,正常对照62例)山西省吕梁地区汉族人的LR基因第20外显子的基因多态性,分析其与2型糖尿病及血脂之间的关系。结果被检测对象LR第20外显子存在明显的多态性,在所有检测对象中,+3057位核苷酸G→A变异频率为79.27%,其中DM组和正常对照组+3057位基因变异频率比较差异有统计学意义(86.76%vs71.77%,P<0.05)。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GG型频率只有2.94%;AA基因型组的甘油三酯含量高于GA型组,高于GG型组,而高密度脂蛋白低于GA型组,低于GG型组(P<0.05)。结论吕梁地区存在LR第20外显子+3057位核苷酸基因变异,其变异可能通过影响机体脂质代谢等参与2型糖尿病的发生。

Objective To explore the relationship of the polymorphism of leptin receptor（LR）gene with type 2 diabetes mellitus（DM） and plasma lipid levels. Methods The polymorphism of LR gene exon 20 of 130 subjects（68 DM patients and 62 controls） of Han nationality in lliang region of Shanxi was detected by PCR-RF-SSCP.The relations with type 2 DM and plasma lipid levels were analyzed. Results The frequency of G to A mutation at ＋3057 nucleotide was 79.27% for total,including 86.76% for DM patients and 71.77% for controls（P0.05）. The frequency of AA genotype in DM patients was higher than that in controls,but that of GA genotype was lower. The frequency of GG in DM patients was 2.94%.TG levels of AA genotype was higher than that of GA genotype and GG genotype,but HDL levels of AA genotype was lower than that of GA genotype and GG genotype. Conclusion At nucleotide 3057 in LR exon 20,a G to A mutation is found,which may be a susceptibility marker of DM in lliang population. A allele is associated to type 2 DM and plasma lipid levels.