Literature DB >> 22658654

Genomic determinants of motor and cognitive outcomes in Parkinson's disease.

Sun Ju Chung1, Sebastian M Armasu, Joanna M Biernacka, Kari J Anderson, Timothy G Lesnick, David N Rider, Julie M Cunningham, J Eric Ahlskog, Roberta Frigerio, Demetrius M Maraganore.   

Abstract

BACKGROUND: Little is known regarding genetic factors associated with motor or cognitive outcomes in Parkinson's disease (PD).
OBJECTIVE: To identify common genetic variants associated with motor and cognitive outcomes in PD.
METHODS: The sample consisted of 443 PD cases included in the first genome-wide association study (GWAS) of PD. Methods included telephone interview assessments of motor and cognitive outcomes, a median 9 years following the initial clinical assessments. Analyses included Cox proportional hazard models to study the association of 198,345 single nucleotide polymorphisms (SNPs) with survival free of Hoehn and Yahr stage ≥ 4 (motor outcome), and either TICS-M ≤ 27 or AD-8 ≥ 2 (cognitive outcomes).
RESULTS: The SNP rs10958605 in the C8orf4 gene had the smallest p value in analyses of the motor outcome (HR = 1.81; 95% CI = 1.42-2.31; p = 1.51 × 10(-6)). The SNP rs6482992 in the CLRN3 gene had the smallest p value in analyses of the cognitive outcome (HR = 2.03, 95% CI 1.47-2.79, p = 4.08 × 10(-6)). However, no SNP associations were significant after Bonferroni correction. The C8orf4 gene had small p values for both motor and cognitive outcomes, highlighting inflammation as a possible pathogenesis mechanism for progression in PD.
CONCLUSIONS: This study suggests that common variants in several genes may be associated with motor and cognitive outcomes in PD, with biological plausibility.
Copyright © 2012 Elsevier Ltd. All rights reserved.

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Year:  2012        PMID: 22658654      PMCID: PMC3606821          DOI: 10.1016/j.parkreldis.2012.04.025

Source DB:  PubMed          Journal:  Parkinsonism Relat Disord        ISSN: 1353-8020            Impact factor:   4.891


  28 in total

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Journal:  Neurology       Date:  2005-08-23       Impact factor: 9.910

Review 2.  Genome-wide association studies: theoretical and practical concerns.

Authors:  William Y S Wang; Bryan J Barratt; David G Clayton; John A Todd
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3.  Whole-genome patterns of common DNA variation in three human populations.

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Authors:  J H Bower; D M Maraganore; S K McDonnell; W A Rocca
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Journal:  Neurosci Lett       Date:  1995-12-29       Impact factor: 3.046

6.  Parkinsonism: onset, progression and mortality.

Authors:  M M Hoehn; M D Yahr
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7.  The Mayo Clinic family study of Parkinson's disease: study design, instruments, and sample characteristics.

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8.  Association of circulating TNF-alpha and IL-6 with ageing and parkinsonism.

Authors:  R J Dobbs; A Charlett; A G Purkiss; S M Dobbs; C Weller; D W Peterson
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Authors:  Mariese A Hely; John G L Morris; Wayne G J Reid; Robert Trafficante
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  17 in total

1.  Does α-synuclein have a dual and opposing effect in preclinical vs. clinical Parkinson's disease?

Authors:  Katerina Markopoulou; Joanna M Biernacka; Sebastian M Armasu; Kari J Anderson; J Eric Ahlskog; Bruce A Chase; Sun Ju Chung; Julie M Cunningham; Matthew Farrer; Roberta Frigerio; Demetrius M Maraganore
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Review 3.  Advances in the discovery of genetic risk factors for complex forms of neurodegenerative disorders: contemporary approaches, success, challenges and prospects.

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4.  Longitudinal Epigenome-Wide Methylation Study of Cognitive Decline and Motor Progression in Parkinson's Disease.

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Journal:  Eur Stroke J       Date:  2017-04-19

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9.  Alpha-synuclein repeat variants and survival in Parkinson's disease.

Authors:  Sun Ju Chung; Joanna M Biernacka; Sebastian M Armasu; Kari Anderson; Roberta Frigerio; Jan O Aasly; Grazia Annesi; Anna Rita Bentivoglio; Laura Brighina; Marie-Christine Chartier-Harlin; Stefano Goldwurm; Georgios Hadjigeorgiou; Barbara Jasinska-Myga; Beom Seok Jeon; Yun Joong Kim; Rejko Krüger; Suzanne Lesage; Katerina Markopoulou; George Mellick; Karen E Morrison; Andreas Puschmann; Eng-King Tan; David Crosiers; Jessie Theuns; Christine Van Broeckhoven; Karin Wirdefeldt; Zbigniew K Wszolek; Alexis Elbaz; Demetrius M Maraganore
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