亚甲基四氢叶酸还原酶基因C677T多态性及高同型半胱氨酸血症与中国汉族人群肺血栓栓塞症的关联

为探讨亚甲基四氢叶酸还原酶 (MTHFR)C677T基因多态性与中国汉族人群肺血栓栓塞症 (PTE)的关联 ,观察高同型半胱氨酸血症 (HHc)是否为中国汉族人群肺血栓栓塞症的一个独立危险因素。采用聚合酶链反应 限制性片段长度多态性法检测 92例PTE患者 ,以及年龄、性别与PEG患者匹配的、来自同一区域的 92名对照者的MTH FRC677T基因多态性 ;采用酶联免疫吸附法 (ELISA)测定上述 92对入选对象的空腹血清同型半胱氨酸 (Hcy)浓度。结果 :①PTE组与对照组MTHFR基因C677T突变TT基因型的频率分别为 3 0 .4%和 2 9.4% ,2组T等位基因频率分别为 5 0 %和 47% ,差异均无显著意义 (P >0 .0 5 ) ;TT型与CC型比较发生PTE的相对危险度OR =1 .2 2 ,95 %CI为 0 .5 9～ 2 .5 1 ,表明TT基因型不增加PTE患病的危险性。②PTE组血清Hcy浓度为 ( 1 7.1± 9.3 9) μmol/L ,明显高于对照组 ( 1 3 .8± 7.4) μmol/L],P =0 .0 3 4;高同型半胱氨酸血症 (HHc)增加了PTE患病的危险性 (OR =3 .67,95 %CI为 1 .84～ 7.3 1 )③PTE组CC、CT、TT 3种基因型的Hcy浓度分别为 ( 1 4.8± 6.5 ) μmol/L、( 1 5 .8± 7.3 ) μmol/L、( 2 1 .5± 1 1 ) μmol/L ,对照组对应基因型的血清Hcy浓度分别为 ( 1 2 .1± 5 .2 ) μmol/L、( 1 1 .9± 7.0 ) μmol

Relationship between Methylenetetrahydrofolate Reductase C677T gene Polymorphism and Hyperhomocysteinmia and Pulmonary Thromboembolism

The objective was to detect the relationship of methylenetetrahydrofolate reductase (MTHFR) C677T gene polymorphism and pulmonary thromboembolism(PTE) in Chinese Han nationality population and to investigate the possibility that hyperhomocysteinemia(HHc) is an independent risk factor related with pulmonary thromboembolism(PTE).Methods: 92 patients with PTE and 92 persons as controls, which were matched by age and sex, and analyzed the MTHFR C677T genotypes by the means of polymerase chain reaction and restriction fragment length polymorphism (PCR-RFLP), measured the serum homocysteine levels through the ways of Enzyme Linked Immuno Sorbent Assay(ELISA).Results:①The frequencies of the MTHFR gene C677T mutation TT genotype in PTE cases and controls were respectively 30.4% and 29.4%, the frequencies of T allele gene were 50% and 47%.There was no significant difference in the genotype distribution and allele frequencies between the two groups(P>0.05).The odds radios(OR) of TT genotype for PTE was 1.22(95%CI:0.59～2.51).This indicated that ① TT genotype didn't increase the risk of PTE.②The serum Hcy level in PTE group (17.1±9.39)μmol/L was significantly higher than that in control group(13.8± 7.4)μmol/L (P=0.034); HHc increased in risk of PTE.(odds radios= 3.67,95%CI:1.84～7.31);③The serum Hcy level in PTE group with CC,CT and TT genotype were (14.8±6.5)μmol/L,( 15.8±7.3)μmol/L,(21.5±11)μmol/L,versus (12.1±5.2)μmol/L,(11.9±7.0)μmol/L,(19.8±9.2)μmol/L in the control group.The serum Hcy level in PTE cases and control subjects with TT genotype was significantly higher that with CT or CC genotype in the same group(P<0.01).Indications: Hyperhomocysteinemia increase in risk of PTE, which may be an independent risk factor for PTE in Han nationality in China.MTHFR 677TT genotype is related to hyperhomocysteinemia ,but there is no direct link between MTHFR C677T gene polymorphism and PTE.