CAJ | 학술논문

目的：探讨胱硫醚β-合成酶（Cystathione beta synthase，CBS）基因 T833C、G919A、844ins68多态性及血浆同型半胱氨酸（Homocysteine，Hcy）水平与新疆哈萨克族原发性高血压（Essential Hypertension，EH）的关系。方法选择新疆哈萨克族 EH 患者118例（EH 组）和住院体检者108例（对照组），使用扩增阻滞实变体系法检测 CBS T833C、G919A、844ins68多态性，并采用酶标免疫吸附检测法检测血浆 Hcy 水平，化学发光法检测血浆叶酸、维生素 B12（VitB12）水平。结果EH 组血浆 Hcy 水平均高于对照组（P ＜0．05）。CBS T833C、G919A 纯合型、杂合型血浆 Hcy 水平高于野生型，且差异有统计学意义（P ＜0．05）。EH 组 CBS 基因第833位点 C 等位基因频率、第919位点 A 等位基因频率高于对照组，差异有统计学意义（CBS 833位点 C 等位基因：χ2＝5．917，P ＝0．015；CBS 919位点 A 等位基因：χ2＝5．917，P ＝0．020）。通过 Logistic 多元回归去除混杂因素后显示：年龄（OR＝1．120，P ＝0．000，95％ CI 1．077～1．165）、肥胖（OR ＝1．086，P ＝0．040，95％ CI 1．004～1．174）、高同型半胱氨酸血症（OR ＝1．099，P ＝0．039，95％ CI 1．005～1．203）是新疆哈萨克族 EH 的独立危险因素。结论血浆 Hcy水平与新疆哈萨克族 EH 相关。CBS T833C、G919A、844ins68基因多态性可能与新疆哈萨克族 EH 无关。
목적：탐토광류미β-합성매（Cystathione beta synthase，CBS）기인 T833C、G919A、844ins68다태성급혈장동형반광안산（Homocysteine，Hcy）수평여신강합살극족원발성고혈압（Essential Hypertension，EH）적관계。방법선택신강합살극족 EH 환자118례（EH 조）화주원체검자108례（대조조），사용확증조체실변체계법검측 CBS T833C、G919A、844ins68다태성，병채용매표면역흡부검측법검측혈장 Hcy 수평，화학발광법검측혈장협산、유생소 B12（VitB12）수평。결과EH 조혈장 Hcy 수평균고우대조조（P ＜0．05）。CBS T833C、G919A 순합형、잡합형혈장 Hcy 수평고우야생형，차차이유통계학의의（P ＜0．05）。EH 조 CBS 기인제833위점 C 등위기인빈솔、제919위점 A 등위기인빈솔고우대조조，차이유통계학의의（CBS 833위점 C 등위기인：χ2＝5．917，P ＝0．015；CBS 919위점 A 등위기인：χ2＝5．917，P ＝0．020）。통과 Logistic 다원회귀거제혼잡인소후현시：년령（OR＝1．120，P ＝0．000，95％ CI 1．077～1．165）、비반（OR ＝1．086，P ＝0．040，95％ CI 1．004～1．174）、고동형반광안산혈증（OR ＝1．099，P ＝0．039，95％ CI 1．005～1．203）시신강합살극족 EH 적독립위험인소。결론혈장 Hcy수평여신강합살극족 EH 상관。CBS T833C、G919A、844ins68기인다태성가능여신강합살극족 EH 무관。
Objective To investigate the relationship between polymorphism of cystathionine B-synthase (CBS)genes T833C,G919A,844ins68,plasma homocysteine level and Kazakh patients with Essential Hypertension (EH)in Xinjiang.Methods A case-control study was carried out,which compared 118 EH Kazakh patients with 108 healthy subjects.Amplification refractory mutation system (ARMS) was adopted to analyze the gene polymorphism of CBS T833C,G919A,844ins68.Enzymoimmunoassay was applied to determine the plasma Hcy.Chemiluminescence was applied to determine the plasma Folic acid and Vitamin B12 .Results Compared with the control,plasma Hcy levels were significantly higher in EH group (P <0.05).Plasma levels of Hcy in CBS T833C,G919A heterozygous genotype and homozygotic genotype were statistically higher than those in wild genotype (P <0.05).There were significant differ-ences in CBS T833C,G919A single nucleotide polymorphism (SNP)between EH patients and controls (CBS T833C:χ2 =5.917,P =0.015;CBS G919A:χ2 =5.917,P =0.020).The logistic regression analysis indicated age (OR =1.120,P =0.000,95% CI 1.077-1.165),obesity (OR = 1.086,P =0.040,95% CI 1.004-1.174),hyperhomocysteine (OR =1.099,P =0.039,95% CI 1.005-1.203)were independent risk factors for EH Kazakh patients.Conclusion Plasma levels of Hcy is associated with EH Kazakh patients in Xinjiang while polymorphism of cystathionine B-synthase (CBS)genes T833C,G919A,844ins68 may not be related to EH Kazakh patients.