13 research outputs found
Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases
Central corneal thickness (CCT) is a highly heritable trait associated with complex eye diseases such as keratoconus and glaucoma. We perform a genome-wide association meta-analysis of CCT and identify 19 novel regions. In addition to adding support for known connective tissue-related pathways, pathway analyses uncover previously unreported gene sets. Remarkably, >20% of the CCT-loci are near or within Mendelian disorder genes. These included FBN1, ADAMTS2 and TGFB2 which associate with connective tissue disorders (Marfan, Ehlers-Danlos and Loeys-Dietz syndromes), and the LUM-DCN-KERA gene complex involved in myopia, corneal dystrophies and cornea plana. Using index CCT-increasing variants, we find a significant inverse correlation in effect sizes between CCT and keratoconus (r =-0.62, P = 5.30 × 10-5) but not between CCT and primary open-angle glaucoma (r =-0.17, P = 0.2). Our findings provide evidence for shared genetic influences between CCT and keratoconus, and implicate candidate genes acting in collagen and extracellular matrix regulation
Manic Depressive Psychosis and Schizophrenia: Is There any Subcortical Involvement? A Computerised Tomographic Investigation
Physicochemical characterization of chitosan/nylon6/polyurethane foam chemically cross-linked ternary blends
Processing and Characterization of Functionally Graded Aluminum (A319)—SiCp Metallic Composites by Centrifugal Casting Technique
Erratum to: Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases (Nature Communications, (2018), 9, 1, (1864), 10.1038/s41467-018-03646-6)
10.1038/s41467-018-07819-1Nature Communications10115