Genetic and genomic perspective to understand the molecular pathogenesis of keratoconus
| Autor: | Rohit Shetty, Govindasamy Kumaramanickavel, Nallathambi Jeyabalan, Venkata Ramana Anandula, Arkasubhra Ghosh, Anuprita Ghosh |
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| Rok vydání: | 2013 |
| Předmět: |
linkage mapping
whole exome-genome sequencing Epidemiology Disease pathogenesis keratoconus prevalence molecular mechanisms Genomics Genome-wide association study Disease Biology genetic heterogeneity lcsh:Ophthalmology Symposium: Keratoconus Genetic linkage OMIM : Online Mendelian Inheritance in Man Humans Eye Proteins Molecular Biology Genetics genome-wide association study Genetic heterogeneity Chromosome Mapping Complex segregation analysis genetics and genomics Ophthalmology lcsh:RE1-994 Mutation Age of onset genomic loci |
| Zdroj: | Indian Journal of Ophthalmology Indian Journal of Ophthalmology, Vol 61, Iss 8, Pp 384-388 (2013) |
| ISSN: | 0301-4738 |
| DOI: | 10.4103/0301-4738.116055 |
| Popis: | Keratoconus (KC; Mendelian Inheritance in Man (OMIM) 14830) is a bilateral, progressive corneal defect affecting all ethnic groups around the world. It is the leading cause of corneal transplantation. The age of onset is at puberty, and the disorder is progressive until the 3 rd -4 th decade of life when it usually arrests. It is one of the major ocular problems with significant social and economic impacts as the disease affects young generation. Although genetic and environmental factors are associated with KC, but the precise etiology is still elusive. Results from complex segregation analysis suggests that genetic abnormalities may play an essential role in the susceptibility to KC. Due to genetic heterogeneity, a recent study revealed 17 different genomic loci identified in KC families by linkage mapping in various populations. The focus of this review is to provide a concise update on the current knowledge of the genetic basis of KC and genomic approaches to understand the disease pathogenesis. |
| Databáze: | OpenAIRE |
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