Literature DB >> 10319889

Polymorphism in the parkin gene in sporadic Parkinson's disease.

M Wang1, N Hattori, H Matsumine, T Kobayashi, H Yoshino, A Morioka, T Kitada, S Asakawa, S Minoshima, N Shimizu, Y Mizuno.   

Abstract

We report polymorphism of the parkin gene in 160 sporadic Parkinson's disease (PD) patients and controls. Three polymorphisms were found: a G-to-A transition in exon 4 (S/N167), a C-to-T transition in exon 10 (R/W366), and a G-to-C transition in exon 10 (V/L380). Genotype distributions and allele frequencies of S/N167 and V/L380 did not differ significantly between the two groups. The R/W366 allele frequency was significantly lower in PD patients (1.2 vs 4.4%). The level of protection from PD provided by this allele was 3.60 (95% CI; range, 0.45-6.50), suggesting that it may be a protective factor against PD.

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Year:  1999        PMID: 10319889     DOI: 10.1002/1531-8249(199905)45:5<655::aid-ana15>3.0.co;2-g

Source DB:  PubMed          Journal:  Ann Neurol        ISSN: 0364-5134            Impact factor:   10.422


  14 in total

1.  Impaired transcriptional upregulation of Parkin promoter variant under oxidative stress and proteasomal inhibition: clinical association.

Authors:  E K Tan; K Y Puong; D K Y Chan; K Yew; S Fook-Chong; H Shen; P W Ng; J Woo; Y Yuen; R Pavanni; M C Wong; K Puvan; Y Zhao
Journal:  Hum Genet       Date:  2005-10-22       Impact factor: 4.132

2.  Lack of evidence for association of Parkin promoter polymorphism (PRKN-258) with increased risk of Parkinson's disease.

Authors:  Owen A Ross; Kristoffer Haugarvoll; Jeremy T Stone; Michael G Heckman; Linda R White; Jan O Aasly; J Mark Gibson; Timothy Lynch; Zbigniew K Wszolek; Ryan J Uitti; Matthew J Farrer
Journal:  Parkinsonism Relat Disord       Date:  2007-04-02       Impact factor: 4.891

Review 3.  Twenty years since the discovery of the parkin gene.

Authors:  Nobutaka Hattori; Yoshikuni Mizuno
Journal:  J Neural Transm (Vienna)       Date:  2017-06-15       Impact factor: 3.575

Review 4.  The role of monogenic genes in idiopathic Parkinson's disease.

Authors:  Xylena Reed; Sara Bandrés-Ciga; Cornelis Blauwendraat; Mark R Cookson
Journal:  Neurobiol Dis       Date:  2018-11-15       Impact factor: 5.996

5.  Clinical, neuropathological and genotypic variability in SNCA A53T familial Parkinson's disease. Variability in familial Parkinson's disease.

Authors:  K Markopoulou; D W Dickson; R D McComb; Z K Wszolek; L Katechalidou; L Avery; M S Stansbury; B A Chase
Journal:  Acta Neuropathol       Date:  2008-04-04       Impact factor: 17.088

Review 6.  Genetics of parkin-linked disease.

Authors:  Andrew B West; Nigel T Maidment
Journal:  Hum Genet       Date:  2004-01-15       Impact factor: 4.132

7.  Parkin dosage mutations have greater pathogenicity in familial PD than simple sequence mutations.

Authors:  N Pankratz; D K Kissell; M W Pauciulo; C A Halter; A Rudolph; R F Pfeiffer; K S Marder; T Foroud; W C Nichols
Journal:  Neurology       Date:  2009-07-28       Impact factor: 9.910

Review 8.  Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors:  Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

9.  Parkinson's Disease in Saudi Patients: A Genetic Study.

Authors:  Bashayer R Al-Mubarak; Saeed A Bohlega; Thamer S Alkhairallah; Amna I Magrashi; Maha I AlTurki; Dania S Khalil; Basma S AlAbdulaziz; Hussam Abou Al-Shaar; Abeer E Mustafa; Eman A Alyemni; Bashayer A Alsaffar; Asma I Tahir; Nada A Al Tassan
Journal:  PLoS One       Date:  2015-08-14       Impact factor: 3.240

10.  Mutations in PRKN and SNCA Genes Important for the Progress of Parkinson's Disease.

Authors:  Anna Oczkowska; Wojciech Kozubski; Margarita Lianeri; Jolanta Dorszewska
Journal:  Curr Genomics       Date:  2013-12       Impact factor: 2.236

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