title: [Present status of genome-wide association studies and its applications in ophthalmology].
abstract: Genome-wide association studies (GWAS) assay a dense set of single-nucleotide polymorphisms (SNPs) in whole genome and relate them to various diseases and measurable traits. The completion of Human Genome Project and Human Haplotype Map Project has made this approach possible. Genome-wide association studies have identified a large number of robust associations between genetic variants and common diseases. Now, application of GWAS in eye diseases are actively being pursued and these studies provide an effective methodology for studying the genetic aspects of ophthalmic complex diseases. In this paper, we describe the current understanding of concept, background, development, advantages and disadvantages of GWAS, as well as applications of GWAS in the field of ophthalmology.
authors.affiliation: Department of Ophthalmology, the Second Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou 310009, China.
authors.forename: Lei
authors.initials: L
authors.lastname: Feng
authors.forename: Ya-bo
authors.initials: YB
authors.lastname: Yang
mesh_terms: D016678:Genome; D015894:Genome, Human; D055106:Genome-Wide Association Study; D005838:Genotype; D006239:Haplotypes; D006801:Humans; D009885:Ophthalmology