https://scholars.lib.ntu.edu.tw/handle/123456789/520130
標題: | Mutational analysis of FBXO7 gene in Parkinson's disease in a Taiwanese population | 作者: | CHIN-HSIEN LIN Chen M.-L. Lai T.-T. CHUN-HWEI TAI RUEY-MEEI WU |
公開日期: | 2013 | 出版社: | Elsevier Inc. | 卷: | 34 | 期: | 6 | 起(迄)頁: | 1713.e1-4 | 來源出版物: | Neurobiology of Aging | 摘要: | 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. ? 2013 Elsevier Inc. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-84875247685&doi=10.1016%2fj.neurobiolaging.2012.12.023&partnerID=40&md5=96d9d116c72ae194739c27f314ea2032 https://scholars.lib.ntu.edu.tw/handle/123456789/520130 |
ISSN: | 0197-4580 | DOI: | 10.1016/j.neurobiolaging.2012.12.023 | SDG/關鍵字: | arginine; aspartic acid; cytosine; isoleucine; threonine; thymine; adult; aged; amino acid substitution; article; Asian; cohort analysis; controlled study; exon; FBXO7 gene; female; gene; gene frequency; gene mutation; gene sequence; genetic risk; genetic susceptibility; genetic variability; genotype; heterozygote; human; idiopathic disease; intron; major clinical study; male; mutational analysis; nucleotide sequence; onset age; Parkinson disease; phenotype; population genetics; priority journal; Taiwan; Taiwanese |
顯示於: | 醫學系 |
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