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Whether PARK2, a major responsible gene causing familial PD, affects to the diseasesusceptibility or the phenotypic variability in sporadic PD remains controversial. In this study, we perform the sequence analysis of PARK2 andassess the correlation between clinical features of sporadic PD patients and the detected variants. Materials and Methods: A total of 92 sporadicPD patients were sequenced and underwent the clinical examinations. MIBG scintigraphy was performed in 61 patients and the cardiacuptake was measured as the heart/mediastinum (H/M) ratio. Results: We only detected two novel variants (R51R, L272I) in 3 patients andthree common polymorphisms, S167N, V380L, and R366W, which had the allele frequencies of 38.6%, 7% and 0.5%, respectively. There wereno significant difference of the allele frequencies between patients and controls. 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A Single-Nucleotide Polymorphism of PARK2 Affects the Phenotype in Sporadic Parkinson Disease
http://hdl.handle.net/10069/23120
http://hdl.handle.net/10069/23120645f5fcc-8cfb-46e5-813b-761a190c3c3c
名前 / ファイル | ライセンス | アクション |
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acta_54_3_67.pdf (102.7 kB)
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Item type | 紀要論文 / Departmental Bulletin Paper(1) | |||||
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公開日 | 2010-04-16 | |||||
タイトル | ||||||
タイトル | A Single-Nucleotide Polymorphism of PARK2 Affects the Phenotype in Sporadic Parkinson Disease | |||||
言語 | ||||||
言語 | eng | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | PARK2 | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | Polymorphism | |||||
キーワード | ||||||
主題Scheme | Other | |||||
主題 | MIBG scintigraphy | |||||
資源タイプ | ||||||
資源タイプ識別子 | http://purl.org/coar/resource_type/c_6501 | |||||
資源タイプ | departmental bulletin paper | |||||
著者 |
Sakai, Muniko
× Sakai, Muniko× Tsujino, Akira× Eguchi, Hiroto× Sato, Katsuya× Shirabe, Susumu× Tateishi, Yohei× Sato, Akira× Tsujihata, Mitsuhiro× Yoshimura, Toshiro× Eguchi, Katsumi |
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抄録 | ||||||
内容記述タイプ | Abstract | |||||
内容記述 | Objective: Sporadic Parkinson's disease (PD) is thought to be a complex multifactorial, age-related neurodegenerative disease caused by theinteraction between genetic and environmental factors. Whether PARK2, a major responsible gene causing familial PD, affects to the diseasesusceptibility or the phenotypic variability in sporadic PD remains controversial. In this study, we perform the sequence analysis of PARK2 andassess the correlation between clinical features of sporadic PD patients and the detected variants. Materials and Methods: A total of 92 sporadicPD patients were sequenced and underwent the clinical examinations. MIBG scintigraphy was performed in 61 patients and the cardiacuptake was measured as the heart/mediastinum (H/M) ratio. Results: We only detected two novel variants (R51R, L272I) in 3 patients andthree common polymorphisms, S167N, V380L, and R366W, which had the allele frequencies of 38.6%, 7% and 0.5%, respectively. There wereno significant difference of the allele frequencies between patients and controls. On the evaluation of clinical features, the patients with S167Nhad the younger onsets of age and the tendency of preserved cardiac uptake of MIBG in the early Hoehn and Yahr (HY) stage compared tothe patients without S167N. Conclusions: These results suggest the common polymorphisms of PARK2 might affect the phenotype of sporadicPD without altered susceptibility to PD. | |||||
書誌情報 |
Acta medica Nagasakiensia 巻 54, 号 3, p. 67-71, 発行日 2010-03 |
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ISSN | ||||||
収録物識別子タイプ | ISSN | |||||
収録物識別子 | 0001-6055 | |||||
書誌レコードID | ||||||
収録物識別子タイプ | NCID | |||||
収録物識別子 | AA00508432 | |||||
著者版フラグ | ||||||
出版タイプ | VoR | |||||
出版タイプResource | http://purl.org/coar/version/c_970fb48d4fbd8a85 | |||||
出版者 | ||||||
出版者 | Nagasaki University School of Medicine | |||||
関係URI | ||||||
関連名称 | http://joi.jlc.jst.go.jp/JST.JSTAGE/amn/54.67 | |||||
引用 | ||||||
内容記述タイプ | Other | |||||
内容記述 | Acta medica Nagasakiensia, 54(3), pp.67-71 ; 2010 |