title: [The relationship of methylenetetrahydrofolate reductase G1793A gene polymorphism, hyperhomocysteinaemia and ulcerative colitis].
abstract: OBJECTIVE
  The present study aimed to investigate the associations between genetic polymorphism of methylenetetrahydrofolate reductase (MTHFR) G1793A, plasma homocysteine (Hcy) levels, vitamin status and ulcerative colitis (UC) in a cohort of patients in Hubei Han nationality.
  
  
  METHODS
  Two hundred and ninety-nine UC patients and 764 age- and sex-matched healthy controls were recruited in this study. Polymorphism of MTHFR G1793A was examined using a PCR-RELP method. Plasma levels of Hcy, folate and vitamin B12 were determined by enzymatic cycling assay and corpuscle immune chemiluminescence assay, respectively.
  
  
  RESULTS
  Both variant allele and genotype frequencies in MTHFR G1793A gene were significantly higher in the UC patients compared to the controls (22.24% vs 14.20%, P < 0.001; 42.81% vs 26.97%, P<0.001, respectively). Plasma Hcy levels were increased in UC patients compared to the controls [(20.67 ± 6.42) mmol/L vs (13.21±5.11) mmol/L, P<0.001] while folate and vitamin B12 concentrations were significantly decreased [(11.37±6.34) nmol/L vs (14.89±7.21) nmol/L, P<0.001; (324.15±127.53) pmol/L vs (421.54±128.45) pmol/L, P<0.001, respectively]. Furthermore, hyperhomocysteinaemia (HHcy) and folate deficiency were also more prevalent in the UC patients (32.44% vs 25.78%, P=0.029; 23.41% vs 17.01%, P=0.016, respectively).
  
  
  CONCLUSIONS
  Genetic polymorphism of MTHFR G1793A was strongly associated with UC. HHcy, folate deficiency and low vitamin B12 concentration were common phenomena in the UC patients of Hubei Han nationality. Our findings demonstrate that the genes related to Hcy metabolism may play an important role in the pathogenesis of UC.
authors.affiliation: Department of Gastroenterology, Wuhan University Zhongnan Hospital, Wuhan 430071, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Jiang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhao
authors.forename: Chang-long
authors.initials: CL
authors.lastname: Xu
authors.forename: Shu-guang
authors.initials: SG
authors.lastname: Cao
authors.forename: Li-miao
authors.initials: LM
authors.lastname: Lin
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lei
authors.forename: Sha
authors.initials: S
authors.lastname: Huang
authors.forename: Chang-gao
authors.initials: CG
authors.lastname: Wang
authors.forename: Bing
authors.initials: B
authors.lastname: Xia
mesh_terms: D000328:Adult; D016022:Case-Control Studies; D003093:Colitis, Ulcerative / Q000097:blood* / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000097:blood; D005494:Folic Acid Deficiency / Q000150:complications; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000209:etiology / Q000235:genetics* / Q000378:metabolism; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12