2型糖尿病患者LEP-2548位点SNP与非酒精性脂肪肝的关系  

Association between single nucleotide polymorphisms at the-2548 site in leptin gene and nonalcoholic fatty liver disease in patients with type 2 diabetes

作　　者：丁百静 王震 杨勇 刘充 朴云峰[2] 

机构地区：[1]芜湖市第二人民医院消化内科,安徽省芜湖市224100 [2]吉林大学第一临床医院消化科,吉林省长春市130021

出　　处：《世界华人消化杂志》2009年第26期2732-2737,共6页World Chinese Journal of Digestology

摘　　要：目的:探讨2型糖尿病(type 2 diabetes,T2MD患者瘦素基因(leptin gene promoter,LEP)启动子区-2548单核苷酸多态性(single nucleotid polymorphisms,SNP)与其合并非酒精性脂肪肝的关联.方法:以208例T2MD患者为病例组,其中合并非酒精性脂肪肝患者98例,无脂肪肝者110例,同时选择在性别、年龄上与之匹配的100例健康体检者为正常对照组;采用基于连接酶(ligase detection reaction,LDR)的测序分型方法,检测LEP-2548G>A位点的SNP;同时测量受试者的身高、体质量、腰围、臀围,并检测空腹C肽水平、肝功能、血糖、血脂等临床指标.结果:LEP-2548G>A位点SNP的分布在正常对照组及合并非酒精性脂肪肝、无脂肪肝的T2MD组间差异有显著性(P<0.01);SNP的分布与中腹部肥胖相关,且LEP-2548AA基因型发生中腹部肥胖的风险高,为GG基因型的2.720倍(OR=2.720,95%CI:1.186-6.235,P<0.05);LEP-2548G>A位点的基因型作为独立变量与T2MD患者合并非酒精性脂肪肝患病相关,AA基因型是T2MD患者合并非酒精性脂肪肝的危险因素(95%CI:1.210-7.615,P<0.05).结论:LEP-2548AA基因可能通过调控机体脂肪分布,增加中腹部肥胖风险,促进T2MD合并非酒精性脂肪肝的发生.AIM： To evaluate the association between single nucleotide polymorphisms （SNPs） at the -2548 site in leptin gene and nonalcoholic fatty liver （NAFL） in patients with type 2 diabetes （T2DM）. METHODS： Two hundred and eight patients with T2DM were randomly selected, of which 98 had NAFL and the remaining 110 had no NAFL. One hundred sex- and age-matched healthy volunteers were used as normal controls. The SNPs at the -2548 site in leptin gene in these subjects were detected by ligase detection reaction （LDR）. Meanwhile, the body height, body mass, waistline and hip circumference of all subjects were measured, and clinical parameters such as fasting serum C peptide, liver function, blood glucose, and plasma lipid were determined. RESULTS： The distribution of SNPs at the -2548 site in leptin gene in patients with concurrent T2DM and NAFL was significantly different with that in patients with T2DM alone and healthy volunteers （both P 〈 0.01）. The genotype of SNPs at the -2548 site in leptin gene was correlated with the development of abdominal obesity. The A/A genotype was associated with a 2.720-fold increased risk for abdominal obesity than the GG genotype （OR = 2.720; 95%CI： 1.186-6.235; P 〈 0.05）. The genotype of SNPs at the -2548 site in leptin gene was an independent variable associated with the development of NAFL in T2DM patients. The A/A genotype was a risk factor for the development of NAFL in T2DM patients （OR = 3.035; 95%CI： 1.210-7.615; P 〈 0.05）. CONCLUSION： The A/A genotype at the -2548 site in leptin gene may increase the risk for the development of abdominal obesity and NAFL in T2DM patients.

关 键 词：非酒精性脂肪肝 瘦素 基因多态性 糖尿病 

分 类 号：R575.5[医药卫生—消化系统] R587.1[医药卫生—内科学]