中文摘要：

目的探讨中国延边地区朝鲜族和汉族人群中转录因子7-类似物2（transcription factor7-like2，TCF7L2）基因rs7903146C／T多态性与代谢综合征（metabolic syndrome，MS）和原发性高血压（essential hypertension，EH）及血脂、血清脂联素（plasma adiponectin，PA）的关系。方法应用Sanger直接测序法对延边朝鲜族310人（患者190例和正常对照120人）和汉族344人（患者255例和正常对照组89人）TCF7L2基因rs7903146C／T多态性进行分析。应用ELAS法检测血清胰岛素（insulin，INS）和PA。结果TCF7L2基因rs7903146位点T等位基因频率汉族高于朝鲜族（0．0222YS．0．008）；延边朝鲜族的EH患者TT和CT基因型频率、T等位基因频率显著高于对照组（P〈0．01），在MS和2型糖尿病（type 2 diabetes，T2DM）患者有增高趋势（P=0．09和P=0．07），但在汉族的MS、T2DM和EH患者各种基因型频率和等位基因频率与对照组间的差异无统计学意义；在T2DM组、EH组和正常对照组携带CT基因型或TT基因型PA水平明显高于携带CC基因型（P〈0．05）；总胆固醇、低密度脂蛋白胆固醇的水平在T2DM、MS和EH组均明显高于正常对照组，而血清PA水平MS组低于正常对照组。结论TCF7L2基因rs7903146C／T多态位点的T等位基因可能是延边朝鲜族EH患病危险因子，但与延边朝鲜族T2DM易感性不相关，该多态性与延边汉族的T2DM和EH易感性也不相关；T等位基因影响PA水平，低血清PA是MS发生的危险因素。rs7903146C／T多态存在种族和民族差异。

英文摘要：

Objective To assess the association between a rs7903146（C/T） polymorphism of TCF7L2 gene and metabolic syndrome （MS）, plasma lipoprotein, and plasma adiponectin （PA） in Chinese Korean and Han papulations from Yanbian region. Methods Polymerase chain reaction and DNA sequencing were used to determine the genotype of rs7903146 in 310 Chinese Korean （190 in case group and 120 in control group） and 344 Chinese Han （255 in case group and 89 in control group）. ELIAS was used to test serum insulin （INS） and PA. Results The frequency of T allele was higher in ethnic Han compared with ethnic Koreans （0. 022 vs. 0. 008）, lower than that of Europeans （0. 279） and Africans （0. 257）, but similar to those of Beijing Chinese and Japanese. For ethnic Korean Chinese, the frequencies of TT and CTgenotypes as well as the T allele in patients with EH were significantly higher than those of the control group （P〈0.01）, which also showed an increasing trend for both MS and T2DM groups （P=0.09 and P= 0.07, respectively）. By contrast, for Chinese Han, the frequencies of genotypes and particular allele in patients with MS, T2DM and EH showed no significant difference from those of the control group. For T2DM, EH, and control groups, PA level of individuals with CT or TT genotypes was significantly higher compared with that of the CC genotype （P〈0.05）. The TC and LDL-C levels were significantly higher in T2DM, MS and EH groups compared with those of the control group. The PA level was lower in MS group compared with the control group. Conelusion The T allele of SNP rs7903146 of TCFTL2 gene may be a risk factor for EH in Chinese Korean population from Yanbian region. The T allele also affects the PA level; lower PA is a risk factor for MS. The rs7903146 polymorphism showed a racial and ethnic difference.