中文摘要：

目的探讨解偶联蛋白2（UCP2）基因-866G／A多态性与2型糖尿病及相关代谢异常性状的关系。方法2005年5月至2007年9月，通过先证者引荐法在北京市房山区农村社区共募集287个2型糖尿病家系。应用聚合酶链反应结合限制性片段长度多态性方法进行UCP2基因-866（3／A多态性鉴定。采用非参数同胞对连锁分析和以家庭为基础的关联分析进行基因多态性与表型的相关性检验。结果2型糖尿病家系人群中UCP2基因-866G／A多态性AA、GA和GG三种基因型频率分别为19．7％、52．9％和27．4％，A、G等位基因频率分别为0．461和0．539；非参数连锁分析未发现阳性结果；以家庭为基础的关联分析发现G等位基因具有传递优势，与代谢综合征和中心性肥胖两表型相关（Z=2．28、2．01，均P〈0．05），AA基因型也与上述两表型相关（Z=-2．22、-2．01，均P〈0．05）。结论UCP2基因-866G／A多态性与2型糖尿病家系人群的代谢综合征和中心性肥胖相关，与2型糖尿病及血脂异常无关。

英文摘要：

Objective To explore the association between uncoupling protein 2 gene （UCP2） -866G/A polymorphism and type 2 diabetes mellitus （T2DM） and related traits. Methods A total of 287 eligible T2DM pedigrees were recruited by using the proband-initiated contact method from May 2005 to September 2007 in rural Fangshan district of Beijing. DNA was extracted from blood samples and genotyped by using polymerase chain reaction-restricted fragments length polymorphism （PCR-RFLP） method. Statistical analysis, including non-parametric linkage analysis and family-based association test （FBAT） were implemented to detect the relationship between the variant and the T2DM and related metabolic disorders. Results The frequencies of AA, GA and GG genotype of the UCP2-866G/A variant were 19. 7% , 52. 9% and 27.4% , respectively, as well as the frequencies of A and G allele were 0. 461 and 0. 539. It was found that both the G allele and AA genotype were significantly associated with metabolic syndrome and central obesity in the FBAT analysis （Z =2.28, 2. 01 and -2. 22, -2. 01, respectively, all P 〈 0. 05 ）. However, in the non-parametric linkage analysis, the result did not support the evidence that UCP2 -866G/A polymorphism had potential linkage relationship with T2DM and related traits. Conclusion The UCP2 gene -866G/A polymorphism is related with metabolic syndrome and central obesity, but not with T2DM and dyslipidemia in T2DM families.