title: Methylenetetrahydrofolate reductase C677T and A1298C polymorphisms and variations of homocysteine concentrations in patients with Behcet's disease.
abstract: BACKGROUND
  Behcet's disease (BD) is a chronic, relapsing, multi-systemic inflammatory disorder of unknown causes. This disease is mainly characterized by mucocutaneous, ocular, vascular, and central nervous system manifestations. The aim of this study is to investigate the associations between C677T and A1298C polymorphisms in the methylenetetrahydrofolate reductase (MTHFR) gene and the plasma homocysteine (Hcy), folate, and B12 levels in a relatively large cohort of Tunisian patients with BD.
  
  
  METHODS
  The study included 142 patients with BD and 172 healthy controls. The C677T and A1298C polymorphisms were genotyped using PCR-RFLP. Serum Hcy level was determined using a fluorescence polarization immunoassay. Serum folate and vitamin B12 levels were measured by electrochemiluminescence immunoassay.
  
  
  RESULTS
  Genotype and allele frequencies of the two studied MTHFR polymorphisms did not show any significant differences among BD patients compared to controls. Patient carriers of the 677TT variant and the 677T allele displayed significantly higher Hcy concentration. Moreover, no significant association was found between neither A1298C polymorphism nor the C allele and Hcy, folate, and B12 levels. In multivariate analyses, we reported that 677T allele, male gender, and creatinine level were independent risk factors for hyperhomocysteinemia (HHC).
  
  
  CONCLUSIONS
  In the present study, we report the absence of any significant differences between genotype and allele frequencies for both studied polymorphisms among BD patients compared to healthy controls. Besides, we showed that the T allele of MTHFR C677T polymorphism influenced the Hcy level which is an independent risk factor for HHC in Tunisian BD patients.
authors.affiliation: Unit of Research Molecular Bases of Human Diseases, Sfax Medicine College, Sfax 3029, Tunisia. meriammessedi@yahoo.fr
authors.forename: M
authors.initials: M
authors.lastname: Messedi
authors.forename: M
authors.initials: M
authors.lastname: Frigui
authors.forename: Kh
authors.initials: Kh
authors.lastname: Chaabouni
authors.forename: M
authors.initials: M
authors.lastname: Turki
authors.forename: M
authors.initials: M
authors.lastname: Neifer
authors.forename: A
authors.initials: A
authors.lastname: Lahiyani
authors.forename: M
authors.initials: M
authors.lastname: Messaouad
authors.forename: Z
authors.initials: Z
authors.lastname: Bahloul
authors.forename: F
authors.initials: F
authors.lastname: Ayedi
authors.forename: K
authors.initials: K
authors.lastname: Jamoussi
mesh_terms: D000328:Adult; D001528:Behcet Syndrome / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D016022:Case-Control Studies; D003038:Cobamides / Q000097:blood; D005260:Female; D005492:Folic Acid / Q000097:blood; D005787:Gene Frequency; D056726:Genetic Association Studies; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D020138:Hyperhomocysteinemia / Q000097:blood / Q000201:enzymology / Q000235:genetics*; D008297:Male; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D008875:Middle Aged; D020641:Polymorphism, Single Nucleotide; D012307:Risk Factors; D055815:Young Adult
chemical_list: D003038:Cobamides; D006710:Homocysteine; D005492:Folic Acid; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)
keywords: B12; BD; Behcet’s disease; Behçet's disease; Folate; HHC; Hcy; Homocysteine; Hyperhomocysteinemia; MTHFR; MTHFR polymorphisms; Methylenetetrahydrofolate reductase