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学科主题: 临床医学
题名:
Genetic variants of methionine metabolism and X-ALD phenotype generation: results of a new study sample
作者: 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
发表日期: 2009-08-01
DOI: 10.1007/s00415-009-5114-6
卷: 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
项目资助者: European Leukodystrophies Association
WOS记录号: WOS:000268745600011
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/53808
Appears in Collections:北京大学第一临床医学院_儿科_期刊论文

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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

Recommended Citation:
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.
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