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50bp deletion in the promoter for superoxide dismutase 1 (SOD1) reduces SOD1 expression in vitro and may correlate with increased age of onset of sporadic amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature156293
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Publication Type
Article
Date
Aug-2008
Author
Wendy J Broom
Matthew Greenway
Ghazaleh Sadri-Vakili
Carsten Russ
Kristen E Auwarter
Kelly E Glajch
Nicolas Dupre
Robert J Swingler
Shaun Purcell
Caroline Hayward
Peter C Sapp
Diane McKenna-Yasek
Paul N Valdmanis
Jean-Pierre Bouchard
Vincent Meininger
Betsy A Hosler
Jonathan D Glass
Meraida Polack
Guy A Rouleau
Jang-Ho J Cha
Orla Hardiman
Robert H Brown
Author Affiliation
Day Neuromuscular Research Laboratory, Massachusetts General Hospital, Charlestown, Massachusetts 02129, USA. wendy.broom@gmail.com
Source
Amyotroph Lateral Scler. 2008 Aug;9(4):229-37
Date
Aug-2008
Language
English
Publication Type
Article
Keywords
Age of Onset
Amyotrophic Lateral Sclerosis - enzymology - epidemiology - genetics
Base Sequence
DNA Mutational Analysis
Female
Gene Expression
Genetic Predisposition to Disease
Genotype
Homozygote
Humans
Ireland - epidemiology
Male
Middle Aged
Phenotype
Polymorphism, Genetic
Promoter Regions, Genetic
Quebec - epidemiology
Risk factors
Scotland - epidemiology
Sequence Deletion
Sp1 Transcription Factor - metabolism
Superoxide Dismutase - genetics - metabolism
United States - epidemiology
Abstract
The objective was to test the hypothesis that a described association between homozygosity for a 50bp deletion in the SOD1 promoter 1684bp upstream of the SOD1 ATG and an increased age of onset in SALS can be replicated in additional SALS and control sample sets from other populations. Our second objective was to examine whether this deletion attenuates expression of the SOD1 gene. Genomic DNA from more than 1200 SALS cases from Ireland, Scotland, Quebec and the USA was genotyped for the 50bp SOD1 promoter deletion. Reporter gene expression analysis, electrophoretic mobility shift assays and chromatin immunoprecipitation studies were utilized to examine the functional effects of the deletion. The genetic association for homozygosity for the promoter deletion with an increased age of symptom onset was confirmed overall in this further study (p=0.032), although it was only statistically significant in the Irish subset, and remained highly significant in the combined set of all cohorts (p=0.001). Functional studies demonstrated that this polymorphism reduces the activity of the SOD1 promoter by approximately 50%. In addition we revealed that the transcription factor SP1 binds within the 50bp deletion region in vitro and in vivo. Our findings suggest the hypothesis that this deletion reduces expression of the SOD1 gene and that levels of the SOD1 protein may modify the phenotype of SALS within selected populations.
PubMed ID
18608091 View in PubMed
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Angiogenin levels and ANG genotypes: dysregulation in amyotrophic lateral sclerosis.

https://arctichealth.org/en/permalink/ahliterature139234
Source
PLoS One. 2010;5(11):e15402
Publication Type
Article
Date
2010
Author
Russell Lewis McLaughlin
Julie Phukan
William McCormack
David S Lynch
Matthew Greenway
Simon Cronin
Jean Saunders
Agnieska Slowik
Barbara Tomik
Peter M Andersen
Daniel G Bradley
Phil Jakeman
Orla Hardiman
Author Affiliation
Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland. mclaugr@tcd.ie
Source
PLoS One. 2010;5(11):e15402
Date
2010
Language
English
Publication Type
Article
Keywords
Alleles
Amyotrophic Lateral Sclerosis - genetics
Gene Frequency
Genetic Predisposition to Disease - genetics
Genotype
Haplotypes
Humans
Ireland
Linkage Disequilibrium
Poland
Polymorphism, Single Nucleotide
Ribonuclease, Pancreatic - blood - cerebrospinal fluid - genetics
Sweden
Abstract
To determine whether 5 single nucleotide polymorphisms (SNPs) associate with ALS in 3 different populations. We also assessed the contribution of genotype to angiogenin levels in plasma and CSF.
Allelic association statistics were calculated for polymorphisms in the ANG gene in 859 patients and 1047 controls from Sweden, Ireland and Poland. Plasma, serum and CSF angiogenin levels were quantified and stratified according to genotypes across the ANG gene. The contribution of SNP genotypes to variance in circulating angiogenin levels was estimated in patients and controls.
All SNPs showed association with ALS in the Irish group. The SNP rs17114699 replicated in the Swedish cohort. No SNP associated in the Polish cohort. Age- and sex-corrected circulating angiogenin levels were significantly lower in patients than in controls (p
Notes
Cites: Nat Genet. 2001 Jun;28(2):131-811381259
Cites: Eur J Hum Genet. 2009 Feb;17(2):213-818987618
Cites: Neuroreport. 2002 Dec 3;13(17):2199-20112488796
Cites: Nat Genet. 2003 Aug;34(4):383-9412847526
Cites: Exp Neurol. 2004 Jun;187(2):246-5315144851
Cites: Neurology. 2004 Jun 8;62(11):2127-915184633
Cites: Clin Neurol Neurosurg. 2004 Sep;106(4):289-9315297002
Cites: J Neurol Sci. 1994 Jul;124 Suppl:96-1077807156
Cites: Bioinformatics. 2005 Jan 15;21(2):263-515297300
Cites: Clin Endocrinol (Oxf). 2006 Mar;64(3):271-916487436
Cites: Nat Genet. 2006 Apr;38(4):411-316501576
Cites: Methods Mol Biol. 2006;342:129-3816957372
Cites: Neurology. 2006 Nov 28;67(10):1833-617130418
Cites: Cell. 2007 Jun 29;129(7):1401-1417604727
Cites: Am J Hum Genet. 2007 Sep;81(3):559-7517701901
Cites: Nature. 2007 Oct 18;449(7164):851-6117943122
Cites: Hum Mol Genet. 2008 Jan 1;17(1):130-4917916583
Cites: Ann Neurol. 2007 Dec;62(6):609-1717886298
Cites: Neurogenetics. 2008 Feb;9(1):33-4018087731
Cites: Hum Mol Genet. 2008 Mar 1;17(5):768-7418057069
Cites: Amyotroph Lateral Scler. 2008 Dec;9(6):323-3818752088
Cites: Nature. 2008 Nov 6;456(7218):98-10118758442
Cites: Hum Mol Genet. 2008 Dec 1;17(23):3631-4218723524
Cites: Science. 2002 Jun 21;296(5576):2225-912029063
PubMed ID
21085671 View in PubMed
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Barriers and facilitators to implementing Decision Boxes in primary healthcare teams to facilitate shared decisionmaking: a study protocol.

https://arctichealth.org/en/permalink/ahliterature121904
Source
BMC Med Inform Decis Mak. 2012;12:85
Publication Type
Article
Date
2012
Author
Anik Giguere
Michel Labrecque
Roland Grad
Michel Cauchon
Matthew Greenway
France Légaré
Pierre Pluye
Stephane Turcotte
Lisa Dolovich
R Brian Haynes
Author Affiliation
Health Information Research Unit, Department of Clinical Epidemiology and Biostatistics, McMaster University, CRL-139, 1280 Main Street West, Hamilton, ON, L8S 4?K1, Canada. anikgiguere@videotron.ca
Source
BMC Med Inform Decis Mak. 2012;12:85
Date
2012
Language
English
Publication Type
Article
Keywords
Canada
Decision Support Systems, Clinical - organization & administration - utilization
Diffusion of Innovation
Health Knowledge, Attitudes, Practice
Humans
Interviews as Topic
Models, organizational
Organizational Culture
Patient care team
Primary Health Care - manpower
Professional-Patient Relations
Qualitative Research
Questionnaires
Regression Analysis
Social Facilitation
Abstract
Decision Boxes are summaries of the most important benefits and harms of health interventions provided to clinicians before they meet the patient, to prepare them to help patients make informed and value-based decisions. Our objective is to explore the barriers and facilitators to using Decision Boxes in clinical practice, more precisely factors stemming from (1) the Decision Boxes themselves, (2) the primary healthcare team (PHT), and (3) the primary care practice environment.
A two-phase mixed methods study will be conducted. Eight Decision Boxes relevant to primary care, and written in both English and in French, will be hosted on a website together with a tutorial to introduce the Decision Box. The Decision Boxes will be delivered as weekly emails over a span of eight weeks to clinicians of PHTs (family physicians, residents and nurses) in five primary care clinics located across two Canadian provinces. Using a web-questionnaire, clinicians will rate each Decision Box with the Information Assessment Method (cognitive impacts, relevance, usefulness, expected benefits) and with a questionnaire based on the Theory of Planned Behavior to study the determinants of clinicians' intention to use what they learned from that Decision Box in their patient encounter (attitude, social norm, perceived behavioral control). Web-log data will be used to monitor clinicians' access to the website. Following the 8-week intervention, we will conduct semi-structured group interviews with clinicians and individual interviews with clinic administrators to explore contextual factors influencing the use of the Decision Boxes. Data collected from questionnaires, focus groups and individual interviews will be combined to identify factors potentially influencing implementation of Decision Boxes in clinical practice by clinicians of PHTs.
This project will allow tailoring of Decision Boxes and their delivery to overcome the specific barriers identified by clinicians of PHTs to improve the implementation of shared decision making in this setting.
Notes
Cites: Can J Nurs Res. 2004 Jun;36(2):89-10315369167
Cites: Implement Sci. 2012;7:7222862935
Cites: J Nurs Care Qual. 2004 Jan-Mar;19(1):18-24; quiz 25-614717144
Cites: Br J Gen Pract. 2005 Jan;55(510):6-1315667759
Cites: Patient Educ Couns. 2006 Mar;60(3):301-1216051459
Cites: Health Expect. 2007 Dec;10(4):364-7917986073
Cites: Patient Educ Couns. 2008 Dec;73(3):526-3518752915
Cites: Patient Educ Couns. 2009 Apr;75(1):37-5219036550
Cites: Cochrane Database Syst Rev. 2010;(5):CD00673220464744
Cites: J Interprof Care. 2011 Jan;25(1):18-2520795835
Cites: J Eval Clin Pract. 2010 Dec;16(6):1236-4320722882
Cites: Implement Sci. 2011;6:521241514
Cites: Health Expect. 2011 Mar;14 Suppl 1:96-11020629764
Cites: BMC Health Serv Res. 2011;11:2321281487
Cites: BMC Med Inform Decis Mak. 2011;11:1721385470
Cites: J Eval Clin Pract. 2011 Aug;17(4):554-6420695950
Cites: Cochrane Database Syst Rev. 2011;(10):CD00143121975733
Cites: Soc Sci Med. 1999 Sep;49(5):651-6110452420
PubMed ID
22867107 View in PubMed
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