ArticlePloS one2019
Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium.
Article in PloS one, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 85 citations in OpenAlex.
- Predictive Utility of Genetic Risk for Myopic Maculopathy Presence and Progression in a Chinese High Myopia Cohort.Investigative ophthalmology & visual science · 2025Article
- Connecting the dots: the role of genetics in posterior vitreous detachment.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2025Review
- Pathologic Myopia.Advances in experimental medicine and biology · 2025Review
- The role of inflammation in myopic retinopathy.Frontiers in ophthalmology · 2025Review
- A genome-wide analysis of 340 318 participants identifies four novel loci associated with the age of first spectacle wear.Human molecular genetics · 2022Article
- An emerging spectrum of variants and clinical features inChannels (Austin, Tex.) · 2021Review
- Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021Article
- IMI Pathologic Myopia.Investigative ophthalmology & visual science · 2021Review
- Childhood Myopic Foveoschisis in LRPAP1-associated Myopia.Middle East African journal of ophthalmologyArticle
- Article
Corrections and comments
- Erratum issued
Authors and funding
34 authors at 12 institutions in 7 countries.
Funding
Abstract
purposeTo 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).
methodsA 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).
resultsIn 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.
conclusionsOf 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.
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