| 摘要: |
| 目的：研究脂联素（adiponectin）APMl基因单核苷酸多态性（single nucleotide polymorphism，SNP）与2型糖尿病的关联性。方法：应用聚合酶链反应一限制性内切酶片段长度多态性技术，选择3个APMl基因SPNs位点：一11377C〉G、＋45T〉G和＋276G〉T，对75个2型糖尿病家系（337例）进行基因分型，并以Genehunter软件分析单个SNP在家系中传递不平衡（transmission—disequilibrium，TDT）情况和多个SNPs所构成的单倍型传递情况，同时进行人体测量学、血糖、血脂等临床参数的检测。结果：（1）经TDT分析，未发现APM1基因SNPs单个位点在2型糖尿病患病子代中优势传递；（2）所检测的3个SNPs所构成的单倍型在患病子代中未见优势传递；（3）对一11377C〉G位点不同基因型生理、生化指标分析：在糖代谢异常组，GG基因型体质量指数（BMI）、腰围（WC）明显高于CC基因型（P=0．032，P=0．030）；G等位基因携带者HDL—C水平低于CC基因型（P=0．006），而空腹胰岛素（FINS）水平高于CC基因型（P=0．011）；在家系正常对照组，G等位基因携带者FINS水平明显低于CC基因型（P=0．021）；（4）对＋45T〉G多态性的分析：在糖代谢异常组，GG基因型BMI明显高于TT基因型（P=0．036），而FINS水平明显低于TT基因型（P=0．014）；（5）对＋276G〉T多态性的研究：在家系正常组，T等位基因携带者的BMI明显低于GG基因型（P=0．043）。结论：未发现APM1基因3个多态性位点与2型糖尿病存在相关性。但APM1基因对胰岛B细胞功能、肥胖可能有一定影响。 |
| 关键词: 脂联素基因 多态性,单核苷酸 糖尿病,2型 |
| DOI：10.3724/SP.J.1008.2007.00143 |
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| 基金项目:国家自然科学基金（30270632）. |
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| Polymorphism of adiponectin gene in pedigree of type 2 diabetes mellitus |
| WANG Ji-ying, WANG Yan-bo, YU Yong-chun , LI Zhi, TENG Xiao-hong, WANG Hong-ling |
| (1. Department of Endocrinology, Shanghai 10th People＇s Hospital, Tongji University, Shanghai 200072, China; 2. Central Laboratory, Shanghai 10th People＇ s Hospital, Tongji University) |
| Abstract: |
| Objective： To investigate the correlation between the single nucleotide polymorphism （SNP） of adiponectin （APM1） gene and type 2 diabetes mellitus. Methods： Three common binding sites （-11377C〉G, ＋45T〉G, and ＋276G〉 T） of SNP on the APM1 gene were genotyped by polymerase chain reaction-restriction fragment length polymorphism （PCRRFLP） assay in 75 pedigrees （337 individuals） of type 2 diabetes mellitus. Genehunt software was used to analyze the transmission-disequilibrium （TDT） and to calculate SNP combining haplotypes. Meanwhile, the physiological and biochemical parameters were also determined in the pedigrees of type 2 diabetes mellitus. Results： We found no preferential transmission in the tested binding sites or any haplotypes of SNP in the APM1 gene in the filial generation of type 2 diabetes mellitus. In type 2 diabetes mellitus group, GG genotype had higher body mass index （BMI）（P=0. 032） and waist circumference （WC）（P= 0. 030） compared to CC genotype in the patients with SNP-11377 binding site; patients with G allele had lower levels of highdensity lipoprotein cholesterol （HDL-C）（P= 0. 006）and higher levels of fasting plasma insulin （FINS） （P= 0. 011） as compared to CC genotype. However, FINS levels （P=0. 021） in subjects with CC genotype were significantly lower than those with G allele in healthy control group. For patients with SNP＋45 binding site, those with GG genotypes had higher BMI （P=0. 036） and lower levels of FINS （P=0. 014） than those with TT genotypes in both groups. For patients with SNP＋276 binding site, those with GG genotypes had higher BMI（P=0. 043） than those with T allele in the control group. Conclusion： The SNP of the APM1 gene is not associated with the pedigrees of type 2 diabetes mellitus, but APM1 gene has influence on the function of insulin B cells and the development of obesity. |
| Key words: adiponectin gene polymorphism,single nucleotide diabetes mellitus,type 2 |
