瘦素受体基因多态性与2型糖尿病合并非酒精性脂肪肝的关系  

The relationship between leptin receptor gene polymorphism and type 2 diabetes complicated with non - alcoholic fatty liver diseases

作　　者：鲁红云[1] 孙辽[1] 舒晓春[1] 谢丹红[1] 孙家忠[2] 徐焱成[2] 

机构地区：[1]中山大学附属第五医院内分泌科,广东珠海519000 [2]武汉大学中南医院内分泌科

出　　处：《中国医师杂志》2008年第5期584-586,共3页Journal of Chinese Physician

摘　　要：目的探讨瘦素受体（LEPR）基因G3057A多态性与2型糖尿病合并非酒精性脂肪肝的关系。方法以216例新诊断的2型糖尿病患者（包括104例合并非酒精性脂肪肝）及108例正常糖耐量者作为受试对象，采用半巢式PCR-RFLP和PCR产物直接测序法检测各组的基因变异频率，ELISA法检测各组瘦素及胰岛素水平，常规检测血糖、血脂等代谢参数。结果2型糖尿病合并非酒精性脂肪肝组具有较高的谷丙转氨酶、甘油三酯、低密度脂蛋白胆固醇、瘦素水平和较低的胰岛素水平。其3057位核苷酸G—A变异频率为76．0％，也明显高于2型糖尿病不伴脂肪肝组及糖耐量正常组（分别为62．1．3％，53．2％），差异有统计学意义（X^2=14．63，P〈0．01）。结论LEPR第3057位核苷酸基因多态性可能通过调节机体脂质代谢、影响机体胰岛素敏感性等途径参与2型糖尿病合并非酒精性的发生。Objective To investigate the relationship between human leptin receptor （LEPR） gene G3057A polymorphism and type 2 diabetes complicated with non- alcoholic fatty liver disease （NAFLD）. Methods 216 cases of newly diagnosed type 2 diabetes （ 104 ca- ses complicated with NAFLD） and 108 cases of normal glucose tolerances （NGT） were recruited. Hemi - nested PCR-RFLP and PCR direct sequence analysis were conducted to detect the polymorphisms of LEPR G3057A polymorphism. The plasma leptin and insulin levels were measured by ELISA kit. Plasma lipid and glucose metabolic parameters were measured routinely. Liver ultrasound scanning was carried out among all subjects. Results Type 2 diabetic patients complicated with NAFLD had higher plasma alanine aminotransferase （ ALT）, triglycerides （TG）, low density lipoprotein cholesterol （LDL-C）, leptin levels and lower plasma insulin levels than those cases without NAFLD and NGT. The variant frequency at nucleotide 3057 G to A transversion was 76. 0 % in type 2 diabetic patients complicated with NAFLD, which was also significant higher than those cases without NAFLD （62. 1% ） or NGT cases （53.2%） （X^2 = 14. 63, P 〈0. 01）. Conclusions The polymorphism of LEPR gene 3057 probably contributes to the onset of NAFLD in type 2 diabetes by regulating lipid metabolism and affecting insulin sensitivity.

关 键 词：糖尿病并发症 脂肪肝 酒精性/并发症 瘦素 多态现象 遗传 

分 类 号：R587.1[医药卫生—内分泌] R575.5[医药卫生—内科学]