A neurologist's guide to genome-wide association studies

被引：21

作者：

Mullen, S. A. ^{[1
,2
]}

Crompton, D. E. ^{[1
,2
]}

Carney, P. W. ^{[1
,2
]}

Helbig, I. ^{[1
,2
,3
]}

Berkovic, S. F. ^{[1
,2
]}

机构：

[1] Univ Melbourne, Epilepsy Res Ctr, Heidelberg, Vic 3084, Australia

[2] Univ Melbourne, Dept Med Neurol, Heidelberg, Vic 3084, Australia

[3] Univ Kiel, Dept Neuropediat, Kiel, Germany

来源：

NEUROLOGY | 2009年 / 72卷 / 06期

基金：

澳大利亚国家健康与医学研究理事会;

关键词：

TRANSCRIPTION-FACTOR-7-LIKE-2; TCF7L2; GENE; SYSTEMIC-LUPUS-ERYTHEMATOSUS; COMMON VARIANTS; RARE VARIANTS; SEIZURE TYPES; RISK-FACTOR; SUSCEPTIBILITY; EPILEPSY; ALLELES; DISEASE;

D O I：

10.1212/01.wnl.0000341942.29513.bd

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. Neurology (R) 2009; 72: 558-565

引用

页码：558 / 565

页数：8

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