[Association of genetic polymorphisms in methionine metabolism genes with X-linked adrenoleukodystrophy]
Guang-na Cao1, Xin-hua Bao, Hui Xiong
1Department of Pediatrics, Peking University First Hospital, Beijing, 100034 P. R. China.
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.
Conclusion:
The GG genotype of TC2 c.776 C/G may contribute to X-ALD phenotype.
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