Iglesias, Adriana I.; Mishra, Aniket; Vitart, Veronique; van Duijn, Cornelia M.; MacGregor, Stuart; on behalf of the "International Glaucoma Genetics Consortium"
Description:
Results from the meta-analyses of genome-wide association studies for central cornea thickness in human. Corneal thinning is a common feature of rare Mendelian connective tissue disorders, such as Ehlers-Danlos syndrome (EDS), Marfan syndrome and osteogenesis imperfecta (OI), and extreme thinning is a clinical characteristic of brittle cornea syndrome . Thinner CCT is also observed in more common ocular disorders such as keratoconus, the leading cause of corneal transplants worldwide. Dataset pertaining to the publication “Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases” which uses genetic variants imputed to the 1000 Genomes phase 1 reference in cohorts of European ancestry (14 cohorts,N=17,803) and Asian ancestry (5 cohorts, N=8,107) .