Thrifty genotype and thrifty phenotype in children with diabetes and/or obesity

关于血清脂联素、瘦素及其与血糖控制和肥胖相关基因多态性在儿童期发病的TIDM中的关系的证据很少。对24名T1型糖尿病青春期女孩（平均年龄15.9岁）每年一次，连续三年以上进行血样采集。采用PCR直接测序法检测肥胖相关基因多态性，包括解偶联蛋白1基因（UCP1、A3826G）、β3-肾上腺素能受体基因（β3AR、Trp64Arg）和脂联素基因（SNP45、164、276、349）。我们研究了血清脂肪细胞因子水平、肥胖相关基因多态性、血糖控制（HbA1C）、每日胰岛素剂量、BMI和血压之间的关系。血清脂联素水平（平均：9.60±4.64μg/ml）与年龄（p=0.0025）、BMI （p<0.001）、收缩压（p=0.015）呈负相关。血清瘦素水平（平均：16.6±11.6ng/ml）与年龄（p<0.001）、BMI （p<0.001）、收缩压（p<0.001）、胰岛素用量（p<0.001）呈正相关。血清脂联素/瘦素水平与HbA1C无显著相关性。基因多态性分析结果如下：UCP1(n=24)；A/ g (15), g / g (3), A/A(6), β3ar；T/T(17), T/A(5), A/A(2), AdipoSNP45；T/T(7), T/ g (15), g / g (2), snp276；G/G(18), t /G(6), snp349；A/A(10), A/ g (12), g / g (2), snp164；我/我(23),I / T(1)。具有以下基因多态性（UCP1的A/A和A/G， β3AR的T/T， AdipoSNP45的T/T， AdipoSNP349的A/A）的患者表现为高瘦素血症和低脂联素血症。1例脂联素基因SNP 164I/T患者血清平均脂联素水平极低（3.4±1.4μg/ml）。在青春期T1DM女孩中，肥胖相关的脂肪细胞分裂异常出现，基于肥胖相关基因多态性的体重控制生活方式干预将是重要的。

Little evidence is available regarding serum adiponectin, leptin and its relationship with glycemic control and obesity-related gene polymorphisms in childhood-onset TIDM. Blood was sampled from twenty four T1 diabetic pubertal girls (mean age : 15.9) once a year for more than three years serially. Obesity-related gene polymorphisms including uncoupling protein-1 gene (UCP1, A3826G), β3-adrenergic receptor gene (β3AR, Trp64Arg) and adiponectin gene (SNP45, 164, 276, 349) were determined by PCR direct sequences. We investigated the relationships between serum adipocytokine levels, obesity-related gene polymorphisms, glycemic control (HbA1C), daily insulin dosage, BMI and blood pressure. Serum adiponectin levels (mean : 9.60±4.64μg/ml) were negatively related with age (p=0.0025), BMI (p<0.001), systolic blood pressure (p=0.015). Serum leptin levels (mean : 16.6±11.6ng/ml) were positively related with age (p<0.001), BMI (p<0.001), systolic blood pressure (p<0.001), insulin dosage (p<0.001). No significant correlation was found between serum adiponectin/leptin levels and HbA1C. The results of gene analysis for polymorphisms were as follows : UCP1(n=24) ; A/G(15), G/G(3), A/A(6), β3AR ; T/T(17), T/A(5), A/A(2), AdipoSNP45 ; T/T(7), T/G(15), G/G(2), SNP276 ; G/G(18), T/G(6), SNP349 ; A/A(10), A/G(12), G/G(2), SNP164 ; I/I(23), I/T(1). The patients who had following gene polymorphisms (A/A and A/G in UCP1, T/T in β3AR, T/T in AdipoSNP45, A/A in AdipoSNP349) showed hyperleptinemia and hypoadiponectinemia. One patient who had a adiponectin gene SNP 164I/T showed extremely low mean serum adiponectin level (3.4±1.4μg/ml). In pubertal girls with T1DM, obesity related dysadipocytokinemia appeared and life-style intervention with weight control based on obesity-related gene polymorphisms will be important.