APPL1基因与2型糖尿病患者体脂含量及分布的相关性

目的 观察APPL1基因单核苷酸多态性(SNP)与体脂含量及分布的关系.方法 590例无血缘关系的上海地区中国人,糖耐量正常(NGT)者358名,2型糖尿病(T2DM)者232例.用聚合酶链反应-限制性片段长度多态性方法检测rs3806622、rs4640525基因型.测定体重指数(BMI)、腰围(W)、臀围和股围.测定空腹血脂谱、空腹及糖负荷后2 h血糖、胰岛素和C肽水平.结果 不论在NGT组还是T2DM组,其BMI＞25 kg/m2与BMI≥25 kg/m2亚组间rs3806622、rs4640525基因型频率和等位基因频率比较差异均无统计学意义;T2DM组腰围亚组问rs3806622、rs4640525等位基因频率分布差异有统计学意义(均P＜0.05),腰围值高者G等位基因频率显著增高[0.084,W＜90 cm(0.022)],OR值分别为2.26(95%可信区间1.05～4.86)和4.13(95%可信区间1.21～14.09);经年龄、性别、BMI校正后,T2DM组rs3806622、rs4640525位点携带G等位基因者均较非携带G等位基因者腰围值高(P＜0.05);相关因素的逐步多元回归分析发现性别、BMI及rs4640525均独立相关因素(均P＜0.05).结论 APPL1基因SNP(rs3806622和rs4640525)与中国人2型糖尿病患者体脂分布相关.

Association of variants in APPL1 gene with body fat and its distribution in Chinese patients with type 2 diabetic mellitus

OBJECTIVE: To investigate the impact of single nucleotide polymorphisms (SNPs) in APPL1 gene on body fat and its distribution. METHODS: 590 unrelated Shanghai residents of Han nationality, including 358 subjects with normal glucose tolerance (NGT) and 232 subjects with type 2 diabetes mellitus (T2DM), underwent measurement of body mass index (BMI), waist circumference (W), hip circumference (H), and femoral circumference (F). Peripheral blood samples were collected to detect the blood sugar, blood lipids, fasting C - peptide (FCP), fasting insulin (FINS), fasting plasma glucose (FGLU), total cholesterol (TC), and triglyceride (TG) 0 and 120 minutes after glucose challenge. Polymerase chain reaction-restriction fragment length polymorphism was used to detect the 2 SNPs (rs3806622 and rs4640525). RESULTS: No differences in the frequencies of rs3806622 and rs4640525 genotypes between the subjects with the BMI < 25 kg/m2 and those with the BMI > or = 25 kg/m2 either in the NGT group or T2DM group. The G allele frequencies of the rs3806622 and rs4640525 genotypes in the T2DM patients with longer W values were significantly higher than those in the patients with shorter W value (OR = 2.26, 95% CI 1.05 - 4.86, and OR = 4.3, 95% CI 1.21 - 14.09). The W values of the T2DM subjects with G alleles were significantly higher than those of the T2DM subjects without G alleles after adjustment of age, sex, and BMI (all P < 0.05). Stepwise regression analysis showed that in addition to sex and BMI, rs4640525 was also an associated factor of waist circumference (all P < 0.05). CONCLUSION: SNPs (rs3806622 and rs4640525) in APPL1 gene are correlated with body fat distribution in T2DM.