SynthesisHuman genetics2012
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.
Synthesis in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 8 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
44 citing papers in PubMed, 8 syntheses or guidelines pooled it, 73 citations in OpenAlex.
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled it
- Polymorphism in the RASGRF1 gene with high myopia: A meta-analysis.Molecular vision · 2015Pooled it
- Education influences the association between genetic variants and refractive error: a meta-analysis of five Singapore studies.Human molecular genetics · 2014Pooled it
- Meta-analysis of the association between lumican gene polymorphisms and susceptibility to high Myopia.PloS one · 2014Pooled it
- Genome-wide meta-analysis of myopia and hyperopia provides evidence for replication of 11 loci.PloS one · 2014Pooled it
- Nine loci for ocular axial length identified through genome-wide association studies, including shared loci with refractive error.American journal of human genetics · 2013Pooled it
- Meta-analysis of genome-wide association studies in five cohorts reveals common variants in RBFOX1, a regulator of tissue-specific splicing, associated with refractive error.Human molecular genetics · 2013Pooled it
- Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia.Nature genetics · 2013Pooled it
- Advances in the genetics of refractive errors: Contributions from the CREAM consortium.Acta ophthalmologica · 2026Review
- Genetic Architecture of Myopia and Its Implications for Risk Stratification and Prognosis.Diagnostics (Basel, Switzerland) · 2026Review
- Bi-Gaussian analysis reveals distinct education-related alterations in spherical equivalent and axial length-results from the Gutenberg Health Study.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2024Article
- Association of Risk Variants in the CFH Gene With Elevated Levels of Coagulation and Complement Factors in Idiopathic Multifocal Choroiditis.JAMA ophthalmology · 2023Article
- Applications of Genomics and Transcriptomics in Precision Medicine for Myopia Control or Prevention.Biomolecules · 2023Review
- Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.Communications biology · 2023Article
- Ocular biological parameters and prevalence of myopia in vocational high school and general high school in China.Frontiers in public health · 2023Article
- Gene-level association analysis of ordinal traits with functional ordinal logistic regressions.Genetic epidemiology · 2022Article
- The Role of GJD2(Cx36) in Refractive Error Development.Investigative ophthalmology & visual science · 2022Review
- Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.Investigative ophthalmology & visual science · 2021Article
- Myopia in African Americans Is Significantly Linked to Chromosome 7p15.2-14.2.Investigative ophthalmology & visual science · 2021Article
- Article
Corrections and comments
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Authors and funding
95 authors at 20 institutions in 13 countries.
Funding
Abstract
Myopia is a complex genetic disorder and a common cause of visual impairment among working age adults. Genome-wide association studies have identified susceptibility loci on chromosomes 15q14 and 15q25 in Caucasian populations of European ancestry. Here, we present a confirmation and meta-analysis study in which we assessed whether these two loci are also associated with myopia in other populations. The study population comprised 31 cohorts from the Consortium of Refractive Error and Myopia (CREAM) representing 4 different continents with 55,177 individuals; 42,845 Caucasians and 12,332 Asians. We performed a meta-analysis of 14 single nucleotide polymorphisms (SNPs) on 15q14 and 5 SNPs on 15q25 using linear regression analysis with spherical equivalent as a quantitative outcome, adjusted for age and sex. We calculated the odds ratio (OR) of myopia versus hyperopia for carriers of the top-SNP alleles using a fixed effects meta-analysis. At locus 15q14, all SNPs were significantly replicated, with the lowest P value 3.87 × 10(-12) for SNP rs634990 in Caucasians, and 9.65 × 10(-4) for rs8032019 in Asians. The overall meta-analysis provided P value 9.20 × 10(-23) for the top SNP rs634990. The risk of myopia versus hyperopia was OR 1.88 (95 % CI 1.64, 2.16, P < 0.001) for homozygous carriers of the risk allele at the top SNP rs634990, and OR 1.33 (95 % CI 1.19, 1.49, P < 0.001) for heterozygous carriers. SNPs at locus 15q25 did not replicate significantly (P value 5.81 × 10(-2) for top SNP rs939661). We conclude that common variants at chromosome 15q14 influence susceptibility for myopia in Caucasian and Asian populations world-wide.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.