title: Genomic strategies to understand causes of keratoconus.
abstract: Keratoconus (KTCN) is a degenerative disorder of the eye characterized by the conical shape and thinning of the cornea. The abnormal structure of KTCN-affected cornea results in loss of visual acuity. While many studies examine how environmental factors influence disease development, finding the genetic triggers has been a major emphasis of KTCN research. This paper focuses on genomic strategies that were implemented for finding candidate genes, including linkage and association studies, and presents different approaches of mutation screening. The advantages and limitations of particular tools are discussed based on literature and personal experience. Since etiology underlying KTCN is complex, numerous findings indicating heterogeneity of genetic factors involved KTCN etiology are presented.
authors.affiliation: Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Swiecickiego 4, Poznan, 60-781, Poland.|Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, Poznan, 60-479, Poland.
authors.forename: Justyna A
authors.initials: JA
authors.lastname: Karolak
authors.affiliation: Department of Genetics and Pharmaceutical Microbiology, Poznan University of Medical Sciences, Swiecickiego 4, Poznan, 60-781, Poland. gamar@man.poznan.pl.|Institute of Human Genetics, Polish Academy of Sciences, Strzeszynska 32, Poznan, 60-479, Poland. gamar@man.poznan.pl.
authors.forename: Marzena
authors.initials: M
authors.lastname: Gajecka
mesh_terms: D003315:Cornea / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005123:Eye / Q000503:physiopathology; D005136:Eye Proteins / Q000235:genetics; D008040:Genetic Linkage; D020022:Genetic Predisposition to Disease; D055106:Genome-Wide Association Study; D023281:Genomics; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007640:Keratoconus / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation
chemical_list: D005136:Eye Proteins
keywords: Candidate gene; Complex disease; High-throughput methods; Keratoconus; Next-generation sequencing