CAJ | 학술논문

目的探讨胱硫醚β-合成酶(cystathione beta synthase,CBS)基因T833C、G919A、844ins68多态性以及血浆同型半胱氨酸(homocysteine,Hcy)水平与新疆维吾尔族、汉族原发性高血压(essential hypertension,EH)的相关性.方法收集EH患者429例,其中维吾尔族211例,汉族218例;健康对照组共410名,其中维吾尔族210名,汉族200名.应用扩增阻滞实变体系(amplification refractory mutation system,ARMS)检测CBS基因T833C、G919A、844ins68多态性,并用酶标免疫吸附检测法检测血浆Hcy水平,用化学发光法检测血浆叶酸、维生素B12水平.结果维吾尔族、汉族EH组血浆Hcy水平均高于对照组(P＜0.05).维吾尔族、汉族CBS基因T833C、G919A突变基因型血浆Hcy水平高于未突变基因型(野生型),且差异有统计学意义(P＜0.05).CBS基因G919A多态的频率在维吾尔族及汉族EH组与对照组之间差异有统计学意义(维吾尔族:x2=10.264,P＜0.01;汉族:x2=23.075,P＜0.01);CBS基因T833C SNP分布频率在维吾尔族EH组和对照组有统计学意义(x2=40.254,P＜0.01).通过Logistic多元回归去除混杂因素后显示,年龄(OR=1.151,P=0.047,95％CI=1.002-1.323)、T833C(CC)(OR=1.078,P=0,003,95％CI=1.043～1.114)、肥胖(OR=1.284,P=0.021,95％CI=1.038～1.590)、高同型半胱氨酸血症(OR=3.296,P=0.016,95％CI=1.244-8.733)是维吾尔族EH的独立危险因素.年龄(OR=1.162,P=0.007,95％CI=1.042～1.297)、肥胖(OR=3.501,P=0.003,95％CI=1.521～8.060)、高同型半胱氨酸水平(OR=1.046,P=0.031,95％CI=1.011-1.459)是汉族EH独立危险因素.结论血浆Hey水平与新疆维吾尔族、汉族EH相关.CBS基因T833C CC基因型可能与新疆维吾尔族EH相关.
목적 탐토광류미β-합성매(cystathione beta synthase,CBS)기인T833C、G919A、844ins68다태성이급혈장동형반광안산(homocysteine,Hcy)수평여신강유오이족、한족원발성고혈압(essential hypertension,EH)적상관성.방법 수집EH환자429례,기중유오이족211례,한족218례;건강대조조공410명,기중유오이족210명,한족200명.응용확증조체실변체계(amplification refractory mutation system,ARMS)검측CBS기인T833C、G919A、844ins68다태성,병용매표면역흡부검측법검측혈장Hcy수평,용화학발광법검측혈장협산、유생소B12수평.결과 유오이족、한족EH조혈장Hcy수평균고우대조조(P＜0.05).유오이족、한족CBS기인T833C、G919A돌변기인형혈장Hcy수평고우미돌변기인형(야생형),차차이유통계학의의(P＜0.05).CBS기인G919A다태적빈솔재유오이족급한족EH조여대조조지간차이유통계학의의(유오이족:x2=10.264,P＜0.01;한족:x2=23.075,P＜0.01);CBS기인T833C SNP분포빈솔재유오이족EH조화대조조유통계학의의(x2=40.254,P＜0.01).통과Logistic다원회귀거제혼잡인소후현시,년령(OR=1.151,P=0.047,95％CI=1.002-1.323)、T833C(CC)(OR=1.078,P=0,003,95％CI=1.043～1.114)、비반(OR=1.284,P=0.021,95％CI=1.038～1.590)、고동형반광안산혈증(OR=3.296,P=0.016,95％CI=1.244-8.733)시유오이족EH적독립위험인소.년령(OR=1.162,P=0.007,95％CI=1.042～1.297)、비반(OR=3.501,P=0.003,95％CI=1.521～8.060)、고동형반광안산수평(OR=1.046,P=0.031,95％CI=1.011-1.459)시한족EH독립위험인소.결론 혈장Hey수평여신강유오이족、한족EH상관.CBS기인T833C CC기인형가능여신강유오이족EH상관.
Objective To investigate the cystathione beta synthase (CBS) gene T833C,G919A,844ins68 polymorphisms and plasma homocysteine (H'cy) levels in ethnic Uyghur and Han patients with essential hypertension (EH) in Xinjiang.Methods Four hundred twenty nine cases including 211 Uyghur and 218 Han EH patients were recruited,whilst 410 healthy individuals including 210 Uyghurs and 200 Hans were used as the controls.Amplification refractory mutation system (ARMS) was adopted to analyze the CBS gene polymorphisms including T833C,G919A and 844ins68.Enzymoimmunoassay was applied to determine the plasma level of Hcy.Chemiluminescence was applied to determine the plasma folic acid and vitamin B12.Results Compared with the controls,the plasma Hcy level was significantly higher in the EH group in both ethnic Uyghurs and Hans (P＜0.05).Plasma levels of Hcy in T833C,G919A genotypes (for both heterozygotes and homozygotes) were statistically higher than wild types (P＜0.05).A significant difference was detected in G919A polymorphism between the EH patients and controls in both Uyghur and Han ethnics (Uyghur:x2=10.264,P＜0.01; Han:x2=23.075,P＜0.01),and in T833C between the EH patients and controls in ethnic Uyghurs (x2 =40.254,P＜0.01).Logistic regression analysis indicated that age (OR=1.151,P=0.047,95％CI=1.002-1.323),T833C (CC) (OR=1.078,P=0.003,95％CI =1.043-1.114),obesity (OR=1.284,P=0.021,95％CI=1.038-1.590),hyperhomocysteine (OR=3.296,P=0.016,95％CI=1.244-8.733) were independent risk factors for EH among ethnic Uygurs,while age (OR=1.162,P=0.007,95％CI=1.042 1.297),obesity (OR=3.501,P=0.003,95％CI=1.521-8.060),hyperhomocysteine (OR=1.046,P=0.031,95％CI=1.011 1.459) were independent risk factors for EH in ethnic Hans after adjusting for confounding factors.Conclusion Plasma levels of Hcy is associated with ethnic Uyghur and Han patients with EH in Xinjiang.CBS gene T833C CC genotype may be associated with the EH among Uyghur ethnics.