Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium

Autor: Chee Wai Wong, Yoshikatsu Hosoda, Annette Kifley, Yee Ling Wong, Susanne Hopf, Annechien E. G. Haarman, Paul Mitchell, Tien Yin Wong, Gemmy Cheung, Virginie J. M. Verhoeven, Kyoko Ohno-Matsui, Moritz Hess, Terri L. Young, Akitaka Tsujikawa, Kristina N. Whisenhunt, Seang-Mei Saw, Sonoko Sensaki, Pirro G. Hysi, Panagiotis Laspas, Stefan Nickels, Kenji Yamashiro, Masahiro Miyake, Veluchamy A Barathi, Quan V Hoang, Jie Jin Wang, Wanting Zhao, Christopher J Hammond, Ecosse L. Lamoureux, Ching-Yu Cheng, Stuart W. Tompson, Caroline C W Klaver, Milly S. Tedja, Xueling Sim
Přispěvatelé: Epidemiology, Ophthalmology, Clinical Genetics
Rok vydání: 2019
Předmět:
Refractive error
Candidate gene
genetic structures
Emmetropia
Genome-wide association study
Sensory disorders Donders Center for Medical Neuroscience [Radboudumc 12]
Macular Degeneration
Mathematical and Statistical Techniques
Medicine and Health Sciences
Myopia
Geriatric Ophthalmology
Dioptre
Visual Impairments
Aged
80 and over
Multidisciplinary
Retinal Degeneration
Statistics
Genomics
Metaanalysis
Phenotype
Research Design
Physical Sciences
Medicine
Retinal Disorders
Female
Anatomy
Research Article
medicine.medical_specialty
Science
Ocular Anatomy
Single-nucleotide polymorphism
Research and Analysis Methods
Retina
Ocular System
Ophthalmology
Genetics
Genome-Wide Association Studies
medicine
Humans
Statistical Methods
business.industry
Gene Expression Profiling
Case-control study
Biology and Life Sciences
Computational Biology
Genetic Variation
Correction
Human Genetics
Macular degeneration
Genome Analysis
medicine.disease
eye diseases
Genetic Loci
Geriatrics
Macular Disorders
Case-Control Studies
Eyes
sense organs
business
Head
Mathematics
Zdroj: PLoS ONE
PLoS One (print), 14(8):e0220143. Public Library of Science
PLoS One, 14
PLoS One, 14, 8
PLoS ONE, Vol 14, Iss 8, p e0220143 (2019)
ISSN: 1932-6203
Popis: Purpose: To evaluate the roles of known myopia-associated genetic variants for development of myopic macular degeneration (MMD) in individuals with high myopia (HM), using case-control studies from the Consortium of Refractive Error and Myopia (CREAM). Methods: A candidate gene approach tested 50 myopia-associated loci for association with HM and MMD, using meta-analyses of case-control studies comprising subjects of European and Asian ancestry aged 30 to 80 years from 10 studies. Fifty loci with the strongest associations with myopia were chosen from a previous published GWAS study. Highly myopic (spherical equivalent [SE] ≤ -5.0 diopters [D]) cases with MMD (N = 348), and two sets of controls were enrolled: (1) the first set included 16, 275 emmetropes (SE ≤ -0.5 D); and (2) second set included 898 highly myopic subjects (SE ≤ -5.0 D) without MMD. MMD was classified based on the International photographic classification for pathologic myopia (META-PM). Results: In the first analysis, comprising highly myopic cases with MMD (N = 348) versus emmetropic controls without MMD (N = 16, 275), two SNPs were significantly associated with high myopia in adults with HM and MMD: (1) rs10824518 (P = 6.20E-07) in KCNMA1, which is highly expressed in human retinal and scleral tissues; and (2) rs524952 (P = 2.32E-16) near GJD2. In the second analysis, comprising highly myopic cases with MMD (N = 348) versus highly myopic controls without MMD (N = 898), none of the SNPs studied reached Bonferroni-corrected significance. Conclusions: Of the 50 myopia-associated loci, we did not find any variant specifically associated with MMD, but the KCNMA1 and GJD2 loci were significantly associated with HM in highly myopic subjects with MMD, compared to emmetropes.
Correction--10 Oct 2019: Wong YL, Hysi P, Cheung G, Tedja M, Hoang QV, et al. (2019) Correction: Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium. PLOS ONE 14(10): e0223942. https://doi.org/10.1371/journal.pone.0223942
Databáze: OpenAIRE
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