CAJ | 학술논문

目的：探讨血浆同型半胱氨酸（Hcy）及胱硫醚β合成酶（CBS）基因T833C多态性与新疆哈萨克族（哈族）、汉民族原发性高血压（EH）的相关性。方法选取哈族239例EH患者（哈族EH组）和206例血压正常者（哈族对照组），汉族256例EH患者（汉族EH组）和224例血压正常者（汉族对照组）为研究对象，采用全自动生化分析仪检测4组受试对象血浆中Hcy水平及相关生化指标，采用扩增阻碍突变系统（ARMS）法检测4组受试者CBS基因T833C多态性，分析Hcy、CBS基因T833C多态性与EH的相关性。结果新疆哈族、汉族EH患者血浆Hcy水平均显著高于正常对照组（P<0.05），哈族EH组C等位基因频率明显高于哈族对照组（P<0.05），且哈族、汉族TT基因型个体血浆Hcy水平显著低于TC基因型个体（P<0.05）；汉族EH组及汉族对照组T、C等位基因频率及TT、TC基因型频率差异均无统计学意义。结论 CBS基因T833C多态性与新疆哈族EH的发生存在相关性，与汉族EH的发生可能无相关性，其机制可能与CBS基因突变改变了Hcy的代谢有关。
목적：탐토혈장동형반광안산（Hcy）급광류미β합성매（CBS）기인T833C다태성여신강합살극족（합족）、한민족원발성고혈압（EH）적상관성。방법선취합족239례EH환자（합족EH조）화206례혈압정상자（합족대조조），한족256례EH환자（한족EH조）화224례혈압정상자（한족대조조）위연구대상，채용전자동생화분석의검측4조수시대상혈장중Hcy수평급상관생화지표，채용확증조애돌변계통（ARMS）법검측4조수시자CBS기인T833C다태성，분석Hcy、CBS기인T833C다태성여EH적상관성。결과신강합족、한족EH환자혈장Hcy수평균현저고우정상대조조（P<0.05），합족EH조C등위기인빈솔명현고우합족대조조（P<0.05），차합족、한족TT기인형개체혈장Hcy수평현저저우TC기인형개체（P<0.05）；한족EH조급한족대조조T、C등위기인빈솔급TT、TC기인형빈솔차이균무통계학의의。결론 CBS기인T833C다태성여신강합족EH적발생존재상관성，여한족EH적발생가능무상관성，기궤제가능여CBS기인돌변개변료Hcy적대사유관。
Objective To investigate the association between plasma homocysteine (Hcy) levels and cystathionineβsynthase (CBS) T833C gene polymorphism with essential hypertension in Xinjiang Kazakh and Han populations. Methods A total of 239 Kazak patients with hypertension (Kazak EH group), 206 Kazak people with normal blood pressure (Kazak con?trol group), 256 Han patients with hypertension (Han EH group) and 206 Han people with normal blood pressure (Han con?trol group) were selected for the study. Amplification refractory mutation system(ARMS) was used to analyze the polymor?phism of CBS gene T833C,TT,TC and CC genotypes and the various sites of T,C allele frequencies in four groups. In the meantime, the Hcy level and related biochemical indices were detected using automatic biochemical analyzer. Results The plasma Hcy levels were significantly higher in Kazak EH group and Han EH group than those of Kazak control group and Han control group (P<0.05). The C allele frequencies were significantly higher in Kazak EH group than that of Kazak control group (P<0.05). The plasma level of Hcy was significantly lower in Kazakh and Han people with TT genotypes than that of TC genotypes (P<0.05). There were no significant differences in the frequency of genotypes and alleles between Han EH group and Han control group (P>0.05).Conclusion The Cystathionineβsynthase gene of T833C polymorphism may be associated with essential hypertension in Kazak people in Xinjiang, but no such association in Han population in Xinji?ang. The mechanism may be related to the altered metabolism of Hcy induced by CBS mutation.