Hcy及其代谢酶MTHFRC677T基因多态性与新疆汉族原发性高血压的相关性研究

Association of the plasm homocysteine levels and methylenetetrahydrofolate reductase C677T polymorphisms with essential hypertension in Han nationality in Xinjiang

目的探讨新疆石河子地区汉族人群原发性高血压(EH)与血浆同型半胱氨酸(Hcy)水平及其代谢酶N5,10-亚甲基四氢叶酸还原酶(MTHFR)C677T基因多态性的关系。方法采用聚合酶链反应-限制性片段长度多态性(PCR-RFLP)的分析方法,检测了新疆汉族人群无血缘关系的200例EH患者(EH组)和200例对照者(NT组)Hcy代谢酶MTHFR C677T基因位点多态性,并进行基因分型;同时用全自动生化分析仪检测Hcy水平及相关生化指标。结果 Hcy水平在EH组和NT组差异有统计学意义(P<0.05);两组中男性的Hcy水平均高于女性,但差异无统计学意义(P>0.05)。EH组和NT组中CC、CT、TT三种基因型的频率分别为19.5%、49.5%、31.0%和30.5%、44.5%、25.0%,其中以CT基因型突变频率最高;EH组中C和T等位基因为44.25%和55.75%,NT组中为52.75%和47.25%。两组中3种基因型总体频率分布差异有统计学意义(χ2=6.658,P=0.036);两组中等位基因频率比较差异有统计学意义(χ2=5.785,P=0.016)。在EH人群中MTHFR C677T基因型中CT型及TT型的Hcy水平显著高于CC型,差异有统计学意义。结论 Hcy水平升高可能是新疆汉族EH疾病发病的危险因素之一,其对EH的预测、诊断和治疗有一定的临床意义。Hcy代谢酶MTHFR C677T基因多态性可能与EH的发生发展相关,T等位基因可能是新疆汉族人群EH的遗传易感基因。

Objective To investigate the correlation of essential hypertension （EH） in Han nationality in Xinjiang with the plasm homocysteine （Hcy levels and polymorphisms of N5, 10-methylenetetrahydrofolate reductase （MTHFR） C677T. Methods The polymorphisms of MTHFR C677T gene in 200 EH patients and 200 controls with normal blood pressure were detected with polymerase chain reaction-restriction fragment length polymorphism （PCR-RFLP） ; the distribution of MTHFR C677T genotypes was analyzed. Automated Biochemieal Analyzer was used to measure the plasm homocysteinemia levels and the clinical biochemical data. Results The plasm Hcy level differed significantly between EH group and control group （P〈0.05）. It was higher in males than in females of both groups, but without significant difference （P^0.05）. The frequency of three genotypes was 19.5% for CC （homozygous normal）, 49.5% for CT （heterozygous） and 31.0% for TT （homozygous mutant） in EH group; it was 30.5%, 44.5% and 25.0% in control group. CT genotype had the greatest frequency among the genotypes. The frequency of C and T allele was 44.25% and 55.75%, respectively, in EH group~ and 52.75% and 47.25%, respectively, in control group. Significant differences in the three genotype frequencies were found between EH and control groups （）~z = 6. 658, P = 0. 036）. The frequency of allele genes differed significantly between the two groups （ Zz = 5. 785, P =0. 016）. The plasm Hcy levels of CT and TT genotypes were significantly higher than those of CC genotype in MTHFRC677T. Oonclusion The increased plasm Hcy level may be one of the risk factors for EH in Han population in Xinjiang, and it may have some clinical significance in the prevention, diagnosis and treatment of EH. MTHFR C677T gene polymorphisms may be correlated with the occurrence and development of EH. T allele may be one of the predisposing factors for EH in Xinjinag Han population.