血浆同型半胱氨酸和叶酸及MTHFR基因多态性与早产的相关性  

Relationship of Plasma Homocysteine Levels, Folate Levels and MTHFR Gene Polymorphisms with Premature Delivery

作　　者：杜景云[1] 杨新颖[1] 龚波 管玉宇 梅丽艳[1] 李亚梅[1] 

机构地区：[1]上海市宝山区罗店医院妇产科,上海201908 [2]上海市长宁区妇幼保健院检验科,上海200051

出　　处：《中山大学学报（医学科学版）》2013年第6期894-899,共6页Journal of Sun Yat-Sen University:Medical Sciences

基　　金：上海市宝山区科技发展基金(11-E-32)

摘　　要：【目的】探讨孕妇血浆同型半胱氨酸水平(Hcy)、叶酸水平及MTHFR基因多态性与早产的相关性。【方法】采用病例对照研究,选取440例分娩孕妇为研究对象,其中早产临产孕妇(case group)、同孕周健康孕妇(control group)各220例。用高效液相色谱荧光检测法(HPLC-FD)检测两组孕妇血浆同型半胱氨酸水平和叶酸水平差异;14C放射法测定两组孕妇MTHFR的活性;Taqman-MGB技术检测两组孕妇MTHFR基因的5个SNP分型差异。【结果】早产临产孕妇的血浆Hcy水平(μmol/L)明显高于同孕周健康孕妇的血浆Hcy水平(7.56±2.97 vs.5.96±2.54,P=0.015),而早产临产孕妇的血浆叶酸水平(μmol/L)明显低于同孕周健康孕妇血浆叶酸水平(16.21±2.91 vs.18.53±3.44,P=0.002)。早产临产孕妇MTHFR的活性(nmol·mg-1·h-1)明显低于同孕周健康孕妇MTHFR的活性(13.33±3.16 vs.26.86±5.63,P=0.000)。在MTHFR基因中rs1801131和rs1801133在早产临产孕妇组与同孕周健康孕妇组的基因型分布差异有统计学意义(P<0.05)。【结论】早产儿孕妇血浆同型半胱氨酸水平受叶酸水平影响,并与MTHFR基因SNP分型密切相关。[Objective] The aim of this study was to investigate the correlation among plasma levels of homocysteine （hcy）,folate levels,and MTHFR gene polymorphism with premature delivery in pregnant women.[Methods] In this study,we performed a casecontrol study.A total of 440 cases of pregnant women were selected and divided into threatened premature labor group and healthy pregnant women with gestational age in our hospital between January 2011 and January 2012.220 cases were enrolled in each group.We determine plasma Hcy levels and folate levels in each group by using high performance liquid chromatography with fluorescence detection （HPLC-FD） analysis.Meanwhile,the activity of MTHFR was detected by 14C radioactive method analysis.We further examined 5 SNP genotypes of MTHFR genes in each group detected with Taqman-MGB technology.[Results] Data showed that the plasma Hcy levels in threatened premature labor group were much higher than that healthy pregnant women with gestational age （7.56± 2.97 μmol/L vs 5.96 ± 2.54 μmol/L,P=0.015）.Although,the folate levels were reversed in the two groups （16.21 ± 2.91 μmol/L vs 18.53 ± 3.44 μmol/L,P =0.002）.The activity of MTHFR in threatened premature labor group were much lower than that healthy pregnant women with gestational age （13.33 ± 3.16 nmol·mg-1·h-1 vs 26.86 ± 5.63 nmol·mg-1·h-1,P=0.000）.Moreover,rs1801131 and rs 1801133 of MTHFR gene polymorphisms distributed differently in threatened premature labor group and healthy pregnant women with gestational age （P 〈 0.05）.[Conclusions] Collectively,the data suggested that plasma hcy levels were influenced by folate levels and closely related to the MTHFR gene SNP genotype in threatened premature labor.

关 键 词：同型半胱氨酸 早产儿 MTHFR SNP 

分 类 号：R394[医药卫生—医学遗传学] R71[医药卫生—基础医学]