Opinion From Genome-Wide Association Studies VIEWPOINT to Next-Generation Sequencing Lessons From the Past and Planning for the Future The question whether common or rare variants will tion.TheassociatedSNP,rs823128,hasaminorallelefre- Manu Sharma, PhD Department for eventually help us understand the genetic architecture quency of approximately 20% in the Japanese Neurodegenerative of complex diseases, including neurodegenerative dis- population as compared with only 3% in the white popu- Diseases, Hertie orders, is currently being debated. Recently published lation. With this minor allele frequency, individual GWAS Institute for Clinical studies of Alzheimer disease (AD) and Parkinson dis- in white populations have very little power to detect an Brain Research, University of Tübingen, ease (PD) are suggesting the role of common and rare association, even though the SNP is well tagged with the German Centre for 3 variants in both disorders. arrays. Neurodegenerative Using 1000 Genomes and HapMap data as a refer- Diseases (DZNE), GWAS and Missing Heritability ence sample to impute genotypes of untyped markers Tübingen, Germany, and Institute for Clinical “Are we ready for genome-wide association studies?” (ie,toincreasegenomiccoverage)andtoperformGWAS- Epidemiology and This question was asked in 2006 to raise issues about based meta-analysis for diverse phenotypes is now rou- Applied Biometry, genome-wide association studies (GWAS).
JAMA Neurology – American Medical Association
Published: Jan 1, 2014