CAJ | 학술논문

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 factor 7-like 2,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(0.022 vs.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.
목적 탐토중국연변지구조선족화한족인군중전록인자7-유사물2(transcription factor 7-like 2,TCF7L2)기인rs7903146C/T다태성여대사종합정(metabolic syndrome,MS)화원발성고혈압(essential hypertension,EH)급혈지、혈청지련소(plasma adiponectin,PA)적관계.방법 응용Sanger직접측서법대연변조선족310인(환자190례화정상대조120인)화한족344인(환자255례화정상대조조89인)TCF7L2기인rs7903146C/T다태성진행분석.응용ELAS법검측혈청이도소(insulin,INS)화PA.결과 TCF7L2기인rs7903146위점T등위기인빈솔한족고우조선족(0.022 vs.0.008)；연변조선족적EH환자TT화CT기인형빈솔、T등위기인빈솔현저고우대조조(P＜0.01),재MS화2형당뇨병(type 2 diabetes,T2DM)환자유증고추세(P=0.09화P=0.07),단재한족적MS、T2DM화EH환자각충기인형빈솔화등위기인빈솔여대조조간적차이무통계학의의；재T2DM조、EH조화정상대조조휴대CT기인형혹TT기인형PA수평명현고우휴대CC기인형(P＜0.05)；총담고순、저밀도지단백담고순적수평재T2DM、MS화EH조균명현고우정상대조조,이혈청PA수평MS조저우정상대조조.결론 TCF7L2기인rs7903146C/T다태위점적T등위기인가능시연변조선족EH환병위험인자,단여연변조선족T2DM역감성불상관,해다태성여연변한족적T2DM화EH역감성야불상관；T등위기인영향PA수평,저혈청PA시MS발생적위험인소.rs7903146C/T다태존재충족화민족차이.
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 CT genotypes 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.Conclusion The T allele of SNP rs7903146 of TCF7L2 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.