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Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample
Semmler, Alexander2; Bao, Xinhua3; Cao, Guangna3; Koehler, Wolfgang4; Weller, Michael2; Aubourg, Patrick5; Linnebank, Michael1
关键词Leukoencephalopathy Neurogenetics Association Studies In Genetics Leukodystrophies Peroxisomes Metabolic Disease (Inherited)
刊名JOURNAL OF NEUROLOGY
2009-08-01
DOI10.1007/s00415-009-5114-6
256期:8页:1277-1280
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Clinical Neurology
研究领域[WOS]Neurosciences & Neurology
关键词[WOS]LINKED ADRENOLEUKODYSTROPHY ; HOMOCYSTEINE ; VITAMIN-B-12 ; ASSOCIATION ; FOLATE
英文摘要

X-linked adrenoleukodystrophy (X-ALD) is the most common inherited leukodystrophy. Nevertheless, no genotype-phenotype correlation has been established so far. Unidentified modifier genes or other cofactors are suspected to modulate phenotype and prognosis. We recently described polymorphisms of methionine metabolism as possible disease modifiers in X-ALD. To retest these findings, we analyzed 172 new DNA samples of X-ALD patients from different populations (France, Germany, USA, China) by genotyping eight genetic variants of methionine metabolism, including DHFR c.594+59del19bp, CBS c.844_855ins68, MTR c.2756A > G, MTHFR c.677C > T and c.1298A > C, MTRR c.60A > G, RFC1 c.80G > A, and Tc2 c.776C > G. We compared three X-ALD phenotypes: childhood-onset cerebral demyelinating inflammatory type (CCALD; n = 82), adulthood onset with focal cerebral demyelination (ACALD; n = 38), and adulthood onset without cerebral demyelination (AMN; n = 52). The association of genotypes and phenotypes was analyzed with univariate two-sided Pearson′s chi (2). In the comparison between AMN and CCALD, the G allele of Tc2 c.776C > G was associated with X-ALD phenotypes (chi (2) = 6.1; P = 0.048). The prevalence of the GG genotype of Tc2 c.776C > G was higher in patients with CNS demyelination compared to those without CNS demyelination (chi (2) = 4.42; P = 0.036). The GG genotype was also more frequent in CCALD compared to AMN (chi (2) = 4.7; P = 0.031). The other polymorphisms did not show any significant associations in this study sample. Whereas the influence of other polymorphisms of methionine metabolism was not confirmed, the present study supports the previously made observation that the Tc2 genotype contributes to X-ALD phenotype generation.

语种英语
WOS记录号WOS:000268745600011
资助机构European Leukodystrophies Association
引用统计
被引频次:10[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/53808
专题北京大学第一临床医学院_儿科
北京大学第三临床医学院_儿科
作者单位1.Univ Zurich, Dept Neurol, CH-8091 Zurich, Switzerland
2.Univ Zurich Hosp, Dept Neurol, CH-8091 Zurich, Switzerland
3.Peking Univ, Dept Pediat, Hosp 1, Beijing, Peoples R China
4.Sachs Krankenhaus Hubertusburg, Dept Neurol, Wermsdorf, Germany
5.Univ Paris 05, INSERM U745, Dept Pediat Neurol, Hop St Vincent de Paul, Paris, France
推荐引用方式
GB/T 7714
Semmler, Alexander,Bao, Xinhua,Cao, Guangna,et al. Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample[J]. JOURNAL OF NEUROLOGY,2009,256(8):1277-1280.
APA Semmler, Alexander.,Bao, Xinhua.,Cao, Guangna.,Koehler, Wolfgang.,Weller, Michael.,...&Linnebank, Michael.(2009).Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample.JOURNAL OF NEUROLOGY,256(8),1277-1280.
MLA Semmler, Alexander,et al."Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample".JOURNAL OF NEUROLOGY 256.8(2009):1277-1280.
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