Literature DB >> 19204266

A neurologist's guide to genome-wide association studies.

S A Mullen1, D E Crompton, P W Carney, I Helbig, S F Berkovic.   

Abstract

Genome-wide association studies are utilized for gene discovery in common diseases. Genotypes of large groups of unrelated patients are compared to controls. This has become feasible due to the recent technical advances in genomics and convincing positive results are now regularly being published. This review is an accessible introduction to the genetic and technical knowledge needed to interpret such studies. Genome-wide association studies are being applied to many neurologic diseases. Here we use idiopathic generalized epilepsy as an example to highlight the phenotyping, sample size, and statistical issues that must be addressed in such studies. These studies are likely to transform our understanding of complex neurologic diseases in the next few years.

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Year:  2009        PMID: 19204266     DOI: 10.1212/01.wnl.0000341942.29513.bd

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  7 in total

1.  Association study of TRPC4 as a candidate gene for generalized epilepsy with photosensitivity.

Authors:  Sarah von Spiczak; Hiltrud Muhle; Ingo Helbig; Carolien G F de Kovel; Jochen Hampe; Verena Gaus; Bobby P C Koeleman; Dick Lindhout; Stefan Schreiber; Thomas Sander; Ulrich Stephani
Journal:  Neuromolecular Med       Date:  2010-06-24       Impact factor: 3.843

Review 2.  Genome-wide association studies of sleep disorders.

Authors:  David M Raizen; Mark N Wu
Journal:  Chest       Date:  2011-02       Impact factor: 9.410

3.  Familial aggregation of focal seizure semiology in the Epilepsy Phenome/Genome Project.

Authors:  Steven Tobochnik; Robyn Fahlstrom; Catherine Shain; Melodie R Winawer
Journal:  Neurology       Date:  2017-05-31       Impact factor: 9.910

4.  Genetic testing in the epilepsies--report of the ILAE Genetics Commission.

Authors:  Ruth Ottman; Shinichi Hirose; Satish Jain; Holger Lerche; Iscia Lopes-Cendes; Jeffrey L Noebels; José Serratosa; Federico Zara; Ingrid E Scheffer
Journal:  Epilepsia       Date:  2010-01-19       Impact factor: 5.864

5.  Estimating the magnitude of genetic factors by calculating the genetic relative risk of stroke in first-ever lacunar stroke patients.

Authors:  Iris L H Knottnerus; Marij Gielen; Jan Lodder; Rob P W Rouhl; Julie Staals; Robert Vlietinck; Robert J van Oostenbrugge
Journal:  PLoS One       Date:  2011-06-29       Impact factor: 3.240

6.  Drug resistance in epilepsy and the ABCB1 gene: The clinical perspective.

Authors:  Abhijit Das; Shabeesh Balan; Moinak Banerjee; Kurupath Radhakrishnan
Journal:  Indian J Hum Genet       Date:  2011-05

7.  Chipping away at the common epilepsies with complex genetics: the 15q13.3 microdeletion shows the way.

Authors:  John C Mulley; Leanne M Dibbens
Journal:  Genome Med       Date:  2009-03-25       Impact factor: 11.117

  7 in total

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