ArticleAmerican journal of human genetics2011
Genetic variants at 13q12.12 are associated with high myopia in the Han Chinese population.
Article in American journal of human genetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers, 7 of them syntheses that pooled it.
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Who cites it
57 citing papers in PubMed, 7 syntheses or guidelines pooled it, 127 citations in OpenAlex.
- Association of 5p15.2 and 15q14 with high myopia in Tujia and Miao Chinese populations.BMC ophthalmology · 2020Pooled it
- Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error.Nature genetics · 2018Pooled 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 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
- Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium.Human genetics · 2012Pooled it
- Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS genetics · 2012Pooled it
- Myopia: a review of current concepts, association with nonophthalmological conditions, and treatment strategy in children and adolescents.Clinical and experimental pediatrics · 2025Article
- Article
- Discovering Root Causal Genes with High Throughput Perturbations.bioRxiv : the preprint server for biology · 2024Article
- Whole-Exome Sequencing Among School-Aged Children With High Myopia.JAMA network open · 2023Article
- Association of mitochondrial DNA variation with high myopia in a Han Chinese population.Molecular genetics and genomics : MGG · 2023Article
- Identification of loci involved in childhood visual acuity and associations with cognitive skills and educational attainment.NPJ science of learning · 2023Article
- Rare variant analyses across multiethnic cohorts identify novel genes for refractive error.Communications biology · 2023Article
- Whole exome sequencing of known eye genes reveals genetic causes for high myopia.Human molecular genetics · 2022Observational
- Next-Generation Sequencing Screening of 43 Families with Non-Syndromic Early-Onset High Myopia: A Clinical and Genetic Study.International journal of molecular sciences · 2022Article
- Myopia Genetics and Heredity.Children (Basel, Switzerland) · 2022Review
- The plasminogen protein is associated with high myopia as revealed by the iTRAQ-based proteomic analysis of the aqueous humor.Scientific reports · 2021Article
- Article
- RNA-seq and GSEA identifies suppression of ligand-gated chloride efflux channels as the major gene pathway contributing to form deprivation myopia.Scientific reports · 2021Article
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Authors and funding
42 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High myopia, which is extremely prevalent in the Chinese population, is one of the leading causes of blindness in the world. Genetic factors play a critical role in the development of the condition. To identify the genetic variants associated with high myopia in the Han Chinese, we conducted a genome-wide association study (GWAS) of 493,947 SNPs in 1088 individuals (419 cases and 669 controls) from a Han Chinese cohort and followed up on signals that were associated with p < 1.0 × 10(-4) in three independent cohorts (combined, 2803 cases and 5642 controls). We identified a significant association between high myopia and a variant at 13q12.12 (rs9318086, combined p = 1.91 × 10(-16), heterozygous odds ratio = 1.32, and homozygous odds ratio = 1.64). Furthermore, five additional SNPs (rs9510902, rs3794338, rs1886970, rs7325450, and rs7331047) in the same linkage disequilibrium (LD) block with rs9318086 also proved to be significantly associated with high myopia in the Han Chinese population; p values ranged from 5.46 × 10(-11) to 6.16 × 10(-16). This associated locus contains three genes-MIPEP, C1QTNF9B-AS1, and C1QTNF9B. MIPEP and C1QTNF9B were found to be expressed in the retina and retinal pigment epithelium (RPE) and are more likely than C1QTNF9B-AS1 to be associated with high myopia given the evidence of retinal signaling that controls eye growth. Our results suggest that the variants at 13q12.12 are associated with high myopia.
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