title: [The relationship between the plasma homocysteine level and the polymorphism of MTHFR gene C667T in liver cirrhosis].
abstract: OBJECTIVE
  To study the relationship between the plasma homocysteine (HCY) level and the polymorphism of N(5), N(10)-methylenetetrahydrofolate reductase (MTHFR) gene C667T in liver cirrhosis.
  
  
  METHODS
  112 normal subjects and 87 liver cirrhosis patients were recruited in the study. Their plasma HCY levels were measured using high performance liquid chromatography with fluorescence detection and polymorphisms of their MTHFR gene were analyzed using PCR-RFLP.
  
  
  RESULTS
  The mean level of plasma HCY was significantly higher in patients with liver cirrhosis (21.71+/-4.86) micromol/L than that in healthy individuals (8.34+/-3.59) micromol/L. There were three kinds of MTHFR genotypes: +/+ (TT, homozygous mutation), +/- (CT, heterozygous mutation) and -/- (CC, wild type). The frequencies of the three genotypes were as follows: +/+, 29.9%; +/-, 52.9%; -/-, 17.2% in cirrhosis patients and +/+, 19.6%; +/-, 33.9%; -/-, 46.4% in normal subjects. The frequency of homozygous or heterozygous mutation was significantly higher in cirrhosis patients than that in the normal control. Moreover, plasma homocysteine level was markedly higher in patients with MTHFR genetic mutation than those without mutation.
  
  
  CONCLUSIONS
  Hyperhomocysteinemia may be an independent risk factor for liver cirrhosis. MTHFR is the main enzyme related to homocysteine metabolism. The genetic mutation of MTHFR C667T is possibly an important mechanism of hyperhomocysteinemia in liver cirrhosis. The level of plasma homocysteine may be an early indicator for liver cirrhosis.
authors.affiliation: Institute of Liver Diseases, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China. alice-xm@163.com
authors.forename: Xiu-min
authors.initials: XM
authors.lastname: Zhou
authors.forename: Ju-sheng
authors.initials: JS
authors.lastname: Lin
authors.forename: Xue-mei
authors.initials: XM
authors.lastname: Sun
authors.forename: Wang-xian
authors.initials: WX
authors.lastname: Tang
authors.forename: Wen-ying
authors.initials: WY
authors.lastname: Zhang
authors.forename: Shun-yu
authors.initials: SY
authors.lastname: Yuan
authors.forename: Li
authors.initials: L
authors.lastname: Ai
mesh_terms: D005260:Female; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000235:genetics; D008103:Liver Cirrhosis / Q000150:complications* / Q000235:genetics; D008297:Male; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+) / Q000235:genetics*; D017354:Point Mutation; D011110:Polymorphism, Genetic
chemical_list: D006710:Homocysteine; D045102:Methylenetetrahydrofolate Dehydrogenase (NAD+)