title: C677T and A1298C polymorphisms of MTHFR gene and their relation to homocysteine levels in Turner syndrome.
abstract: OBJECTIVE
  To determine the frequency of C677T and A1298C polymorphisms of the MTHFR gene and correlate them with homocysteine serum levels in patients with Turner syndrome (TS) and controls.
  
  
  METHODS
  This case-control study included 78 women with TS and a control group of 372 healthy individuals without personal or family history of cardiovascular disease and cancer. C677T (rs1801133) and A1298C (rs1801131) polymorphisms were detected by polymerase chain reaction-restriction fragment-length polymorphism and the TaqMan system, respectively. Homocysteine serum levels were determined by high-performance liquid chromatography. The results were analyzed statistically, and p<0.05 was considered to represent a significant difference.
  
  
  RESULTS
  The homocysteine levels change was 13.9+3.3 nM in patients with TS and 8.8+3.2 nM in the control group. No significant difference between groups was found (p=0.348). Single-marker analysis revealed no association between MTHFR C677T polymorphism and TS when genotype (p=0.063) or allelic (p=0.277) distribution was considered. Regarding MTHFR A1298C polymorphism, a statistical difference was found between the TS group and the control group, for both genotype (p<0.0001) and allele (p<0.0001) distribution. Haplotype analysis of 2 MTHFR polymorphisms identified 2 haplotypes-CC and TC-associated with TS (p<0.001 and p=0.0165, respectively). However, homocysteine levels were not higher in patients with haplotype risk.
  
  
  CONCLUSIONS
  The results suggest that the C677T and A1298C polymorphisms of the MTHFR gene are not related to homocysteine levels in Brazilian patients with TS, despite the differential distribution of the mutated allele C (A1298C) in these patients. Further studies are needed to investigate the possible genetic interaction with homocysteine levels in TS.
authors.affiliation: Division of Endocrinology, Department of Medicine, Universidade Federal de São Paulo, São Paulo, Brazil.
authors.forename: Kelly C
authors.initials: KC
authors.lastname: Oliveira
authors.forename: Ieda T N
authors.initials: IT
authors.lastname: Verreschi
authors.forename: Eduardo K
authors.initials: EK
authors.lastname: Sugawara
authors.forename: Vanessa C
authors.initials: VC
authors.lastname: Silva
authors.forename: Bianca B
authors.initials: BB
authors.lastname: Galera
authors.forename: Marcial Francis
authors.initials: MF
authors.lastname: Galera
authors.forename: Bianca
authors.initials: B
authors.lastname: Bianco
authors.forename: Monica V N
authors.initials: MV
authors.lastname: Lipay
mesh_terms: D000293:Adolescent; D000328:Adult; D001938:Brazil; D005260:Female; D005787:Gene Frequency; D006710:Homocysteine / Q000097:blood*; D006801:Humans; D042965:Methylenetetrahydrofolate Reductase (NADPH2) / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D012150:Polymorphism, Restriction Fragment Length; D014424:Turner Syndrome / Q000097:blood / Q000235:genetics*; D055815:Young Adult
chemical_list: D006710:Homocysteine; C573423:MTHFR protein, human; D042965:Methylenetetrahydrofolate Reductase (NADPH2)