Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy.
- VernacularTitle:蛋氨酸代谢中3个相关基因的多态性与X-连锁肾上腺脑白质营养不良表型的关系
- Author:
Guang-na CAO
1
;
Xin-hua BAO
;
Hui XIONG
;
Ye WU
;
Xi-ru WU
Author Information
- Publication Type:Journal Article
- MeSH: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; genetics; Adrenoleukodystrophy; genetics; Cystathionine beta-Synthase; genetics; Gene Frequency; Genotype; Humans; Male; Methionine; metabolism; Phenotype; Polymorphism, Genetic; Transcobalamins; genetics
- From: Chinese Journal of Medical Genetics 2011;28(3):279-282
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVETo investigate the association of the polymorphisms of methionine metabolism genes and the phenotype of X-linked adrenoleukodystrophy (X-ALD) and clinical severity.
METHODSThe 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.
RESULTSThe 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.
CONCLUSIONThe GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.
