原发性高血压患者MTHFR基因C677T多态性及血浆Hcy水平的变化

MTHFR Gene C 677 T Polymorphisms and Variation of Plasma Homocysteine Levels in Primary Hypertension

目的 :研究N5 ,N10_亚甲基四氢叶酸还原酶 (MTHFR)基因C677T多态性及血浆同型半胱氨酸(Hcy)水平的改变与原发性高血压的关系。方法 :对55例单纯收缩期高血压 (ISH)和50例非单纯收缩期高血压(NISH)两组及46例健康对照组 ,检测MTHFR基因C677T多态性和血浆Hcy水平。结果 :(1)ISH患者组MTHFR基因纯合 (T/T)型频率高于杂合 (T/C)型和野生 (C/C)型 (49 1%、40 0%和10 9 % ) ,与NISH组及正常对照组比较有极显著性差异 (P<0.01) ,其等位基因频率分布也有极显著性差异 (P<0.01)。而NISH组与对照组基因型分布及等位基因频率均无差异 (P>0.05)。ISH患者组T/T纯合基因型与T/C +C/C基因型的优势比(OR)为3 91(95 %CI:1.89～8.11)。(2)3组中T/T基因型者血浆Hcy 水平均高于其他基因型者 (P<0.05)。(3)ISH组血浆Hcy 水平高于NISH组和对照组 (P<0.05 ,P<0.01) ,NISH组与对照组差异无显著性 (P>0.05)。结论 :高Hcy 血症可能是ISH发病的独立危险因素 ,MTHFR基因C677T纯合突变可能是其发病的重要遗传因素。没有发现NISH的发病与高Hcy 血症有关。

To study the relationship between MTHFR gene C677T polymorphisms and variation of plasma homocysteine levels in primary hypertension.Methods:MTH FR gene C677T polymorphisms were analyzed and the plasma homocysteine levels wer e measured in 55 patients with ISH and 50 patients with NISH and 46 controls.Res ults:(1)The frequencies of MTHFR T were higher than that of T/C heterogenetic ty pe and C homogenetic type in ISH patients(T/T 49.1%;T/C 40.0%;C/C 10.9%),and were significantly different from those of NISH patients and normal individuals( P<0.01).There were significant differences in the frequencies of alleles between ISH group and NISH and control groups(P<0.01).There was no significant differen ce in genotype distribution and frequency of allele in NISH patients and normal individuals(P>0.05).Odds ratio (OR)of T/T genotype to T/C plus C/C genotype was 3.91(95% CI:1.89～8.11)in ISH patients.(2)The plasma homocysteine levels were m arkedly higher in individuals with MTHFR T homogenetic type than other genotypes in three groups(P<0.05).(3)The plasma homocysteine levels in ISH patients were higher than that in NISH and control groups(P<0.05 and P<0.01,respectively).Conc lusion:Hyperhomocysteinemia may be an independent risk factor of ISH.MTHFR gene C677T homozygous mutation may be an important genetic factor in pathogenesis of ISH.The relationship was not found between NISH and hyperhomocysteinemia.