title: [Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy].
abstract: OBJECTIVE
  To investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.
  
  
  METHODS
  The clinical information of 120 X-ALD patients were analyzed and three genetic variants involved in the methionine metabolism, including cystathionine beta-synthase (CBS) c.844_855ins68, 5-methyltetrahydrofolate-homocysteine-S-methyltransferase (MTR) c.2756A to G, and transcobalamin 2 (TC2) c.776 C to G were analyzed by polymerase chain reaction and sequencing. The association between these polymorphisms and phenotype of X-ALD was studied.
  
  
  RESULTS
  The frequency of GG genotype of the TC2 c.776 C/G was higher in patients with central nervous system(CNS) demyelination than in controls (P= 0.012). However, the other two polymorphisms did not show any significant associations with the phenotypes.
  
  
  CONCLUSIONS
  The GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing, 100034 P. R. China.
authors.forename: Guang-na
authors.initials: GN
authors.lastname: Cao
authors.forename: Xin-hua
authors.initials: XH
authors.lastname: Bao
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Ye
authors.initials: Y
authors.lastname: Wu
authors.forename: Xi-ru
authors.initials: XR
authors.lastname: Wu
mesh_terms: D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase / Q000235:genetics; D000326:Adrenoleukodystrophy / Q000235:genetics*; D003541:Cystathionine beta-Synthase / Q000235:genetics; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D008297:Male; D008715:Methionine / Q000378:metabolism*; D010641:Phenotype; D011110:Polymorphism, Genetic; D014155:Transcobalamins / Q000235:genetics
chemical_list: D014155:Transcobalamins; D008715:Methionine; D013766:5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; D003541:Cystathionine beta-Synthase