کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6807700 | 1433582 | 2013 | 4 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
سالمندی
پیش نمایش صفحه اول مقاله
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چکیده انگلیسی
Mutations in the FBXO7 gene cause an autosomal-recessive early-onset parkinsonism with pyramidal tract signs. Its role in typical Parkinson's disease (PD) without pyramidal features is unclear. We assayed FBXO7 gene in 900 participants comprising 448 PD patients and 452 age- and sex-matched control subjects from Taiwan. The entire FBXO7 coding region and intron-exon boundaries were sequenced. We identified 2 novel missense substitutions, p.Ile87Thr and p.Asp328Arg, in a single heterozygous state in 2 early-onset PD patients individually (1.1% early-onset PD). These 2 variants were not observed in control subjects with a total of 904 normal alleles. Additionally, we also found 1 noncoding variant, exon 1 IVS-329C>T, modestly associated with PD. The frequency of the CT/TT genotype was higher in PD patients compared with control subjects (odds ratio, 1.43; 95% confidence interval, 1.02-2.01; p = 0.04). The clinical phenotypes of genetic variant carriers are similar to that seen in idiopathic PD. We conclude that FBXO7 gene contributes little to typical PD in our population. Further studies in other ethnic cohorts will be important to address its potential pathophysiological role in PD.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neurobiology of Aging - Volume 34, Issue 6, June 2013, Pages 1713.e1-1713.e4
Journal: Neurobiology of Aging - Volume 34, Issue 6, June 2013, Pages 1713.e1-1713.e4
نویسندگان
Chin-Hsien Lin, Meng-Ling Chen, Tzu-Ting Lai, Chun-Hwei Tai, Ruey-Meei Wu,