title: Genetic polymorphism of methylenetetrahydrofolate reductase G1793A, hyperhomocysteinemia, and folate deficiency correlate with ulcerative colitis in central China.
abstract: OBJECTIVE
  Methylenetetrahydrofolate reductase (MTHFR) encoding genes were associated with ulcerative colitis in Chinese in our previous study. We further studied association of a new polymorphism of MTHFR G1793A with ulcerative colitis and assessed relationship of this polymorphism with hyperhomocysteinemia (HHcy, > or = 15 mmol/L) and deficiency of folate (< or = 7 nmol/L) and vitamin B(12) (< or = 150 pmol/L) in a cohort of patients with ulcerative colitis in central China.
  
  
  METHODS
  A total of 252 patients and 654 healthy controls were recruited. Polymorphism of MTHFR G1793A was examined using a polymerase chain reaction-restriction fragment length polymorphism method. Plasma levels of homocysteine (Hcy), folate and vitamin B(12) were determined by enzymatic cycling assay and corpuscle immune chemiluminescence assay, respectively.
  
  
  RESULTS
  Frequencies of alleles and genotypes in MTHFR G1793A gene differed significantly between ulcerative colitis patients and the healthy controls (20.83% vs 10.47%, 95% confidence interval [CI]: 1.703-2.972, P = 0.0006; 40.48% vs 19.88%, 95% CI: 1.997-3.761, P = 0.0002, respectively). Plasma Hcy levels were higher and folate and vitamin B(12) concentrations were lower in the patients than in the healthy controls (21.72 +/- 6.59 vs 12.47 +/- 5.02, 95% CI: -10.93--7.58, P < 0.0001; 11.25 +/- 6.19 vs 15.28 +/- 7.72, 95% CI: 2.03-6.04; P < 0.001; 322.81 +/- 128.47 vs 442.59 +/- 129.36, 95% CI: 62.61-136.95, P < 0.0001, respectively). HHcy and folate deficiency were more prevalent in patients with ulcerative colitis (45.32% vs 26.17%, 95% CI: 1.285-4.378, P = 0.005; 30.68% vs 13.0%, 95% CI: 1.416-6.197, P = 0.003, respectively).
  
  
  CONCLUSIONS
  MTHFR G1793A gene polymorphism, HHcy, folate deficiency and low vitamin B(12) concentration were associated with ulcerative colitis in central China. Our findings demonstrate that the Hcy-related gene and metabolites are involved in pathogenesis of ulcerative colitis.
authors.affiliation: Department of Gastroenterology, Wuhan University Zhongnan Hospital, Clinical Research Center for Intestinal & Colorectal Diseases of Hubei Province, Wuhan, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Jiang
authors.forename: Jie
authors.initials: J
authors.lastname: Zhao
authors.forename: Ting
authors.initials: T
authors.lastname: Jiang
authors.forename: Liuqing
authors.initials: L
authors.lastname: Ge
authors.forename: Feng
authors.initials: F
authors.lastname: Zhou
authors.forename: Zhitao
authors.initials: Z
authors.lastname: Chen
authors.forename: Yuan
authors.initials: Y
authors.lastname: Lei
authors.forename: Sha
authors.initials: S
authors.lastname: Huang
authors.forename: Bing
authors.initials: B
authors.lastname: Xia
mesh_terms: D000328:Adult; D000483:Alleles; D002681:China / Q000453:epidemiology; D003093:Colitis, Ulcerative / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D004247:DNA / Q000235:genetics*; D005260:Female; D005492:Folic Acid / Q000378:metabolism*; D005494:Folic Acid Deficiency / Q000201:enzymology / Q000453:epidemiology / Q000209:etiology*; D005787:Gene Frequency; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000201:enzymology / Q000453:epidemiology / Q000209:etiology*; D007124:Immunoenzyme Techniques; D008297:Male; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP) / Q000235:genetics* / Q000378:metabolism; D008875:Middle Aged; D011110:Polymorphism, Genetic; D015995:Prevalence; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D006710:Homocysteine; D004247:DNA; D005492:Folic Acid; D008754:Methylenetetrahydrofolate Dehydrogenase (NADP); D014805:Vitamin B 12