Literature DB >> 20566859

Kinesin-associated protein 3 (KIFAP3) has no effect on survival in a population-based cohort of ALS patients.

Bryan J Traynor1, Michael Nalls, Shiao-Lin Lai, Raphael J Gibbs, Jennifer C Schymick, Sampath Arepalli, Dena Hernandez, Marcel P van der Brug, Janel O Johnson, Allissa Dillman, Mark Cookson, Cristina Moglia, Andrea Calvo, Gabriella Restagno, Gabriele Mora, Adriano Chiò.   

Abstract

It was recently reported that rs1541160 on chromosome 1q24.2 has a marked effect on survival of amyotrophic lateral sclerosis (ALS) patients by influencing KIFAP3 expression. The cohorts used in that study were collected from ALS specialty clinics. We attempted to replicate these findings in a population-based cohort of 504 Italian ALS patients. None of 140 SNPs genotyped within the KIFAP3 locus (including rs1541160) had an effect on survival (log-rank P value for rs1541160 = 0.47) or on gene expression in that region. These data illustrate the complexities associated with analyzing ALS phenotypes for association.

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Year:  2010        PMID： 20566859      PMCID： PMC2901467          DOI： 10.1073/pnas.0914079107

Source DB:  PubMed          Journal:  Proc Natl Acad Sci U S A        ISSN： 0027-8424            Impact factor:   11.205


  16 in total

1.  Prognosis in amyotrophic lateral sclerosis: a population-based study.

Authors:  M A del Aguila; W T Longstreth; V McGuire; T D Koepsell; G van Belle
Journal:  Neurology       Date:  2003-03-11       Impact factor: 9.910

2.  Epidemiology of ALS in Italy: a 10-year prospective population-based study.

Authors:  A Chiò; G Mora; A Calvo; L Mazzini; E Bottacchi; R Mutani
Journal:  Neurology       Date:  2009-02-24       Impact factor: 9.910

3.  A survey of genetic human cortical gene expression.

Authors:  Amanda J Myers; J Raphael Gibbs; Jennifer A Webster; Kristen Rohrer; Alice Zhao; Lauren Marlowe; Mona Kaleem; Doris Leung; Leslie Bryden; Priti Nath; Victoria L Zismann; Keta Joshipura; Matthew J Huentelman; Diane Hu-Lince; Keith D Coon; David W Craig; John V Pearson; Peter Holmans; Christopher B Heward; Eric M Reiman; Dietrich Stephan; John Hardy
Journal:  Nat Genet       Date:  2007-11-04       Impact factor: 38.330

4.  Quantifying and correcting for the winner's curse in genetic association studies.

Authors:  Rui Xiao; Michael Boehnke
Journal:  Genet Epidemiol       Date:  2009-07       Impact factor: 2.135

5.  Abundant quantitative trait loci exist for DNA methylation and gene expression in human brain.

Authors:  J Raphael Gibbs; Marcel P van der Brug; Dena G Hernandez; Bryan J Traynor; Michael A Nalls; Shiao-Lin Lai; Sampath Arepalli; Allissa Dillman; Ian P Rafferty; Juan Troncoso; Robert Johnson; H Ronald Zielke; Luigi Ferrucci; Dan L Longo; Mark R Cookson; Andrew B Singleton
Journal:  PLoS Genet       Date:  2010-05-13       Impact factor: 5.917

6.  The prognosis of adult-onset motor neuron disease: a prospective study based on the Scottish Motor Neuron Disease Register.

Authors:  A M Chancellor; J M Slattery; H Fraser; R J Swingler; S M Holloway; C P Warlow
Journal:  J Neurol       Date:  1993-06       Impact factor: 4.849

7.  Effect of a multidisciplinary amyotrophic lateral sclerosis (ALS) clinic on ALS survival: a population based study, 1996-2000.

Authors:  B J Traynor; M Alexander; B Corr; E Frost; O Hardiman
Journal:  J Neurol Neurosurg Psychiatry       Date:  2003-09       Impact factor: 10.154

8.  A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis.

Authors:  Adriano Chiò; Jennifer C Schymick; Gabriella Restagno; Sonja W Scholz; Federica Lombardo; Shiao-Lin Lai; Gabriele Mora; Hon-Chung Fung; Angela Britton; Sampath Arepalli; J Raphael Gibbs; Michael Nalls; Stephen Berger; Lydia Coulter Kwee; Eugene Z Oddone; Jinhui Ding; Cynthia Crews; Ian Rafferty; Nicole Washecka; Dena Hernandez; Luigi Ferrucci; Stefania Bandinelli; Jack Guralnik; Fabio Macciardi; Federica Torri; Sara Lupoli; Stephen J Chanock; Gilles Thomas; David J Hunter; Christian Gieger; H Erich Wichmann; Andrea Calvo; Roberto Mutani; Stefania Battistini; Fabio Giannini; Claudia Caponnetto; Giovanni Luigi Mancardi; Vincenzo La Bella; Francesca Valentino; Maria Rosaria Monsurrò; Gioacchino Tedeschi; Kalliopi Marinou; Mario Sabatelli; Amelia Conte; Jessica Mandrioli; Patrizia Sola; Fabrizio Salvi; Ilaria Bartolomei; Gabriele Siciliano; Cecilia Carlesi; Richard W Orrell; Kevin Talbot; Zachary Simmons; James Connor; Erik P Pioro; Travis Dunkley; Dietrich A Stephan; Dalia Kasperaviciute; Elizabeth M Fisher; Sibylle Jabonka; Michael Sendtner; Marcus Beck; Lucie Bruijn; Jeffrey Rothstein; Silke Schmidt; Andrew Singleton; John Hardy; Bryan J Traynor
Journal:  Hum Mol Genet       Date:  2009-02-04       Impact factor: 6.150

9.  Reduced expression of the Kinesin-Associated Protein 3 (KIFAP3) gene increases survival in sporadic amyotrophic lateral sclerosis.

Authors:  John E Landers; Judith Melki; Vincent Meininger; Jonathan D Glass; Leonard H van den Berg; Michael A van Es; Peter C Sapp; Paul W J van Vught; Diane M McKenna-Yasek; Hylke M Blauw; Ting-Jan Cho; Meraida Polak; Lijia Shi; Anne-Marie Wills; Wendy J Broom; Nicola Ticozzi; Vincenzo Silani; Aslihan Ozoguz; Ildefonso Rodriguez-Leyva; Jan H Veldink; Adrian J Ivinson; Christiaan G J Saris; Betsy A Hosler; Alayna Barnes-Nessa; Nicole Couture; John H J Wokke; Thomas J Kwiatkowski; Roel A Ophoff; Simon Cronin; Orla Hardiman; Frank P Diekstra; P Nigel Leigh; Christopher E Shaw; Claire L Simpson; Valerie K Hansen; John F Powell; Philippe Corcia; François Salachas; Simon Heath; Pilar Galan; Franck Georges; H Robert Horvitz; Mark Lathrop; Shaun Purcell; Ammar Al-Chalabi; Robert H Brown
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-18       Impact factor: 11.205

10.  Mapping the genetic architecture of gene expression in human liver.

Authors:  Eric E Schadt; Cliona Molony; Eugene Chudin; Ke Hao; Xia Yang; Pek Y Lum; Andrew Kasarskis; Bin Zhang; Susanna Wang; Christine Suver; Jun Zhu; Joshua Millstein; Solveig Sieberts; John Lamb; Debraj GuhaThakurta; Jonathan Derry; John D Storey; Iliana Avila-Campillo; Mark J Kruger; Jason M Johnson; Carol A Rohl; Atila van Nas; Margarete Mehrabian; Thomas A Drake; Aldons J Lusis; Ryan C Smith; F Peter Guengerich; Stephen C Strom; Erin Schuetz; Thomas H Rushmore; Roger Ulrich
Journal:  PLoS Biol       Date:  2008-05-06       Impact factor: 8.029
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  14 in total

Review 1.  Use of biomarkers in ALS drug development and clinical trials.

Authors:  Nadine Bakkar; Ashley Boehringer; Robert Bowser
Journal:  Brain Res       Date:  2014-10-24       Impact factor: 3.252

2.  Genome-wide analysis of the heritability of amyotrophic lateral sclerosis.

Authors:  Margaux F Keller; Luigi Ferrucci; Andrew B Singleton; Pentti J Tienari; Hannu Laaksovirta; Gabriella Restagno; Adriano Chiò; Bryan J Traynor; Michael A Nalls
Journal:  JAMA Neurol       Date:  2014-09       Impact factor: 18.302

3.  Common polymorphisms of chemokine (C-X3-C motif) receptor 1 gene modify amyotrophic lateral sclerosis outcome: A population-based study.

Authors:  Andrea Calvo; Cristina Moglia; Antonio Canosa; Stefania Cammarosano; Antonio Ilardi; Davide Bertuzzo; Bryan J Traynor; Maura Brunetti; Marco Barberis; Gabriele Mora; Federico Casale; Adriano Chiò
Journal:  Muscle Nerve       Date:  2017-04-25       Impact factor: 3.217

Review 4.  Genetic causes of amyotrophic lateral sclerosis: new genetic analysis methodologies entailing new opportunities and challenges.

Authors:  Giuseppe Marangi; Bryan J Traynor
Journal:  Brain Res       Date:  2014-10-12       Impact factor: 3.252

Review 5.  State of play in amyotrophic lateral sclerosis genetics.

Authors:  Alan E Renton; Adriano Chiò; Bryan J Traynor
Journal:  Nat Neurosci       Date:  2013-12-26       Impact factor: 24.884

6.  UNC13A influences survival in Italian amyotrophic lateral sclerosis patients: a population-based study.

Authors:  Adriano Chiò; Gabriele Mora; Gabriella Restagno; Maura Brunetti; Irene Ossola; Marco Barberis; Luigi Ferrucci; Antonio Canosa; Umberto Manera; Cristina Moglia; Giuseppe Fuda; Bryan J Traynor; Andrea Calvo
Journal:  Neurobiol Aging       Date:  2012-08-22       Impact factor: 4.673

Review 7.  The changing scene of amyotrophic lateral sclerosis.

Authors:  Wim Robberecht; Thomas Philips
Journal:  Nat Rev Neurosci       Date:  2013-03-06       Impact factor: 34.870

8.  Amyotrophic lateral sclerosis: new genes, new models, and new mechanisms.

Authors:  Christine Vande Velde; Patrick A Dion; Guy A Rouleau
Journal:  F1000 Biol Rep       Date:  2011-09-01

9.  Association of a Locus in the CAMTA1 Gene With Survival in Patients With Sporadic Amyotrophic Lateral Sclerosis.

Authors:  Isabella Fogh; Kuang Lin; Cinzia Tiloca; James Rooney; Cinzia Gellera; Frank P Diekstra; Antonia Ratti; Aleksey Shatunov; Michael A van Es; Petroula Proitsi; Ashley Jones; William Sproviero; Adriano Chiò; Russell Lewis McLaughlin; Gianni Sorarù; Lucia Corrado; Daniel Stahl; Roberto Del Bo; Cristina Cereda; Barbara Castellotti; Jonathan D Glass; Steven Newhouse; Richard Dobson; Bradley N Smith; Simon Topp; Wouter van Rheenen; Vincent Meininger; Judith Melki; Karen E Morrison; Pamela J Shaw; P Nigel Leigh; Peter M Andersen; Giacomo P Comi; Nicola Ticozzi; Letizia Mazzini; Sandra D'Alfonso; Bryan J Traynor; Philip Van Damme; Wim Robberecht; Robert H Brown; John E Landers; Orla Hardiman; Cathryn M Lewis; Leonard H van den Berg; Christopher E Shaw; Jan H Veldink; Vincenzo Silani; Ammar Al-Chalabi; John Powell
Journal:  JAMA Neurol       Date:  2016-07-01       Impact factor: 29.907

10.  Age of onset of amyotrophic lateral sclerosis is modulated by a locus on 1p34.1.

Authors:  Kreshnik B Ahmeti; Senda Ajroud-Driss; Ammar Al-Chalabi; Peter M Andersen; Jennifer Armstrong; Anne Birve; Hylke M Blauw; Robert H Brown; Lucie Bruijn; Wenjie Chen; Adriano Chio; Mary C Comeau; Simon Cronin; Frank P Diekstra; Athina Soraya Gkazi; Jonathan D Glass; Josh D Grab; Ewout J Groen; Jonathan L Haines; Orla Hardiman; Scott Heller; Jie Huang; Wu-Yen Hung; James M Jaworski; Ashley Jones; Humaira Khan; John E Landers; Carl D Langefeld; P Nigel Leigh; Miranda C Marion; Russell L McLaughlin; Vincent Meininger; Judith Melki; Jack W Miller; Gabriele Mora; Margaret A Pericak-Vance; Evadnie Rampersaud; Wim Robberecht; Laurie P Russell; Francois Salachas; Christiaan G Saris; Aleksey Shatunov; Christopher E Shaw; Nailah Siddique; Teepu Siddique; Bradley N Smith; Robert Sufit; Simon Topp; Bryan J Traynor; Caroline Vance; Philip van Damme; Leonard H van den Berg; Michael A van Es; Paul W van Vught; Jan H Veldink; Yi Yang; J G Zheng
Journal:  Neurobiol Aging       Date:  2012-09-05       Impact factor: 4.673
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