承德地区亚甲基四氢叶酸还原酶基因多态性与妊高征相关性的研究

Correlation between polymorphism of MTHFR gene and pregnancy-induced hypertension syndrome in Chengde area

目的探讨承德地区亚甲基四氢叶酸还原酶(MTHFR)基因C677T多态性与妊高征发病的关系。方法358例孕妇中妊高征患者32例(妊高征组),其中妊娠期高血压组14例,轻度子痫前期组10例,重度子痫前期组8例,326例为正常妊娠(对照组)。采用PCR-荧光探针法,检测并分析358例孕妇外周血中MTHFR基因C677T的分型;同时,检测血浆同型半胱氨酸(Hcy)的水平。结果妊高征疾病组中C677/T677基因型与正常对照组比较,差异有统计学意义(P<0.05);妊高征疾病组中C677/C677基因型与正常对照组比较,差异有统计学意义(P<0.05);妊高征疾病组中T677等位基因频率(51.6%)高于正常对照组(33.1%),差异有统计学意义(P<0.05);妊娠期高血压组、轻度子痫前期组和重度子痫前期组与对照组比较,T677/T677基因型、C677/T677基因型、C677/C677基因型和T677等位基因频率,差异均无统计学意义(P>0.05)。妊高征组和正常对照组中,MTHFR基因存在突变者较无突变者的血浆同型半胱氨酸水平更高,差异有统计学意义(P<0.01)。结论承德地区MTHFR基因C677T多态性和高水平的血浆同型半胱氨酸可能与妊高征的发病有关,T677等位基因可能是妊高征的易感基因。

Objective To investigate the correlation between polymorphism of MTHFR gene(C677T)and the pathogenesis of pregnancy-induced hypertension syndrome(PIHS)in Chengde area.Methods A total of 358 pregnant women were enrolled in the study,including 32 cases of PIHS,who were divided into control group(n=326),gestational hypertension group(n=14),mild preeclampsia group(n=10)and severve preeclampsia group(n=8).PCR Fluorsescence Probing detection was performed to analyze the typing of C677T in MTHFR gene.And the plasma levels of homocysteine(Hcy)were measured.Result There were significant differences in MTHFR C/T and C/C genotypes between PIHS group and control group(P<0.05).The frequencies of C677/C677 genotypes in PIHS group were significantly higher than those in control group(0.516 vs 0.331,P<0.05).Compared with those in control group,there were no significant differences in the allelle frequencies of T/T genotype,C/T genotype,C/C genotype and T677 in other three groups(P>0.05).The levels of plasma homocysteine in women with gene mutation were significantly higher than those of women without mutation in PIHS group and control group(P<0.01).Conclusion The polymorphism of MTHFR gene(C677T)and higher level of plasma homocysteine may play a role in the pathogenesis of PIHS in Chengde area,and T677 allele frequency may be a predisposing gene of PIHS.