title: [Genome-wide association studies: recent advances and future directions].
abstract: Information about human genetic variation collected by the HapMap project and recent advances in high-throughput genotyping have made genome-wide association studies (GWAS) technically feasible. In the past two years, through GWAS using commercially available SNP-typing platforms, numerous loci contributing to disease risk have been identified for common diseases including rheumatoid arthritis and systemic lupus erythematosus. From such successful studies, human geneticists have gained not only broad consensuses in methodological and technical issues, but also clear recognition about the current limitations in the common SNP-based GWAS strategy. Large-scale projects are ongoing to comprehensively catalogue genome structural variants and rare SNPs in multiple human populations. Such a deeper catalogue of genetic variation will accelerate the identification of genetic risk variants associated with common diseases.
authors.affiliation: Department of Maternal-Fetal Biology, National Center for Child Health and Development.
authors.forename: Kazuhiko
authors.initials: K
authors.lastname: Nakabayashi
authors.forename: Atsushi
authors.initials: A
authors.lastname: Tajima
authors.forename: Senji
authors.initials: S
authors.lastname: Shirasawa
mesh_terms: D001172:Arthritis, Rheumatoid / Q000235:genetics; D018628:Gene Dosage / Q000235:genetics; D014644:Genetic Variation; D015894:Genome, Human / Q000235:genetics*; D055106:Genome-Wide Association Study; D006801:Humans; D008180:Lupus Erythematosus, Systemic / Q000235:genetics; D020641:Polymorphism, Single Nucleotide