Genetic Variants Associated With Corneal Biomechanical Properties and Potentially Conferring Susceptibility to Keratoconus in a Genome-Wide Association Study
| Autor: | Alice E. Davidson, Alison J. Hardcastle, Nathan J. Hafford Tear, Pirro G. Hysi, Paul J. Foster, Kay-Tee Khaw, Daniel M. Gore, Karla E. Rojas Lopez, Petra Liskova, Nikolas Pontikos, Stephen J Tuft, Christopher J Hammond, Nicholas J. Wareham, Shabina Hayat, Anthony P Khawaja |
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| Jazyk: | angličtina |
| Rok vydání: | 2019 |
| Předmět: |
medicine.medical_specialty
Keratoconus genetic structures business.industry Corneal Diseases 010102 general mathematics Single-nucleotide polymorphism Genome-wide association study Odds ratio medicine.disease 01 natural sciences eye diseases European Prospective Investigation into Cancer and Nutrition 03 medical and health sciences Ophthalmology 0302 clinical medicine Internal medicine 030221 ophthalmology & optometry medicine sense organs 0101 mathematics Young adult Allele business Original Investigation |
| Zdroj: | JAMA Ophthalmol |
| Popis: | IMPORTANCE: Keratoconus is an important cause of visual loss in young adults, but little is known about its genetic causes. Understanding the genetic determinants of corneal biomechanical factors may in turn teach us about keratoconus etiology. OBJECTIVES: To identify genetic associations with corneal biomechanical properties and to examine whether these genetic variants are associated with keratoconus. DESIGN, SETTING, AND PARTICIPANTS: A stage 1 discovery and replication genome-wide association study (GWAS) of corneal biomechanical properties was performed in 2 cross-sectional populations (6645 participants from the European Prospective Investigation into Cancer and Nutrition [EPIC]–Norfolk Eye Study and 2384 participants from the TwinsUK study). In stage 2, the association of genetic determinants identified in stage 1 with keratoconus was examined in a case-control study. A total of 752 patients with keratoconus were compared with 974 TwinsUK participants (undergoing direct sequencing) or 13 828 EPIC-Norfolk participants (undergoing genotyping and imputation) who were not part of the stage 1 analysis. Data were collected from March 1, 1993, through March 13, 2017, and analyzed from November 1, 2015, through February 1, 2018. EXPOSURES: In stage 1, allele dosage at genome-wide single-nucleotide polymorphisms (SNPs); in stage 2, allele dosage at SNPs with genome-wide significance (P |
| Databáze: | OpenAIRE |
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