title: Hyperhomocysteinemia and methylenetetrahydrofolate reductase 677C-->T and 1298A-->C mutations in patients with inflammatory bowel disease.
abstract: BACKGROUND
  Hyperhomocysteinemia has been recently described in patients with inflammatory bowel disease (IBD), that could be related to the increased risk for thrombosis that exists in this disease. The aim of this study was the assessment of hyperhomocysteinemia in patients with IBD and its relation among vitamin B12 and folate levels, and methylenetetrahydrofolate reductase (MTHFR) 677C-->T and 1298A-->C mutations.
  
  
  METHODS
  Fifty two consecutive patients with IBD were studied (29 women and 23 men); age: mean (standard deviation 41.7 [11.9] years) and 186 controls with no difference in age and gender. Hyperhomocysteinemia was considered as homocysteine levels higher than mean plus two standard deviations of the control group (> or = 13 micromol/l).
  
  
  RESULTS
  patients had an elevated prevalence of hyperhomocysteinemia (17.3 vs. 3.7%; p = 0.002) and lower folate (7.6 [4.1] vs. 8.9 [3.7] ng/ml; p = 0.01) and B12 vitamin levels (499 [287] vs. 603 [231] pg/ml; p = 0.003). Homocysteinemia was higher (14.3 [5.8] vs. 9.1 [3.9] micromol/l; p = 0.006) in 6 patients (11.5%) that had suffered thromboembolism. Frequency of MTHFR 677C-->T (13.5 vs. 11.3%; p = 0.66) and 1298A-->C (7.8 vs. 7.0%; p = 0.76) mutations was not increased in patients. Odds ratio (OR) for IBD in hyperhomocysteinemic patient was 5.51, 95% confidence interval (CI), 1.81-16.76; p = 0.002). Hyperhomocysteinemia was negatively associated with feminine gender (OR 0.08, 95% CI 0.01-0.49; p = 0.006) and folate levels (OR 0.04, 95%CI: 0.007-0.20; p < 0.001).
  
  
  CONCLUSIONS
  hyperhomocysteinemia is associated with IBD and low folate levels, and could be involved in development of thromboembolism. MTHFR 677C-->T and 1298A-->C mutations are not related with the disease.
authors.affiliation: Department of Medicine, Hospital Universitario 12 de Octubre, Madrid, Spain. cfmiranda@inicia.es
authors.forename: C
authors.initials: C
authors.lastname: Fernández-Miranda
authors.forename: M
authors.initials: M
authors.lastname: Martínez Prieto
authors.forename: B
authors.initials: B
authors.lastname: Casis Herce
authors.forename: F
authors.initials: F
authors.lastname: Sánchez Gómez
authors.forename: P
authors.initials: P
authors.lastname: Gómez González
authors.forename: J
authors.initials: J
authors.lastname: Martínez López
authors.forename: S
authors.initials: S
authors.lastname: Sáenz-López Pérez
authors.forename: A
authors.initials: A
authors.lastname: Gómez de la Cámara
mesh_terms: D000328:Adult; D016001:Confidence Intervals; D003627:Data Interpretation, Statistical; D005260:Female; D005492:Folic Acid / Q000097:blood; D006710:Homocysteine / Q000097:blood; D006801:Humans; D020138:Hyperhomocysteinemia / Q000150:complications* / Q000175:diagnosis / Q000453:epidemiology; D015212:Inflammatory Bowel Diseases / Q000097:blood / Q000150:complications* / Q000235:genetics; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D016017:Odds Ratio; D015995:Prevalence; D012737:Sex Factors; D013923:Thromboembolism / Q000209:etiology; D014805:Vitamin B 12 / Q000097:blood
chemical_list: D006710:Homocysteine; D005492:Folic Acid; D042965:Methylenetetrahydrofolate Reductase (NADPH2); D014805:Vitamin B 12