ArticleHuman genetics2005
Ocular refraction: heritability and genome-wide search for eye morphometry traits in an isolated Sardinian population.
Article in Human genetics, 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 5 of them syntheses that pooled it.
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Who cites it
26 citing papers in PubMed, 5 syntheses or guidelines pooled it.
- Meta-analysis of gene-environment-wide association scans accounting for education level identifies additional loci for refractive error.Nature communications · 2016Pooled 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
- Genetic variants near PDGFRA are associated with corneal curvature in Australians.Investigative ophthalmology & visual science · 2012Pooled it
- Genetic variants on chromosome 1q41 influence ocular axial length and high myopia.PLoS genetics · 2012Pooled it
- Refractive error maps: A predictive tool for refractive error progression.Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists) · 2025Article
- Ocular biometric characteristics of Han ethnicity in Tianjin and Uyghur ethnicity in Xinjiang undergoing cataract surgery.International journal of ophthalmology · 2024Article
- A multiethnic genome-wide analysis of 19,420 individuals identifies novel loci associated with axial length and shared genetic influences with refractive error and myopia.Frontiers in genetics · 2023Article
- Genetic Aspects of Keratoconus: A Literature Review Exploring Potential Genetic Contributions and Possible Genetic Relationships with Comorbidities.Ophthalmology and therapy · 2018Review
- Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.Human mutation · 2018Article
- Genetic Variants Associated with Circulating Parathyroid Hormone.Journal of the American Society of Nephrology : JASN · 2017Article
- Article
- Impact of parental history of myopia on the development of myopia in mainland china school-aged children.Ophthalmology and eye diseases · 2014Article
- Environmental and genetic contribution to hypertension prevalence: data from an epidemiological survey on Sardinian genetic isolates.PloS one · 2013Article
- Investigating the relationship between UMODL1 gene polymorphisms and high myopia: a case-control study in Chinese.BMC medical genetics · 2012Article
- Article
- Association of matrix metalloproteinase gene polymorphisms with refractive error in Amish and Ashkenazi families.Investigative ophthalmology & visual science · 2010Article
- Heritabilities of ocular biometrical traits in two croatian isolates with extended pedigrees.Investigative ophthalmology & visual science · 2010Article
- The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures.Molecular vision · 2009Article
- Heritability analysis of spherical equivalent, axial length, corneal curvature, and anterior chamber depth in the Beaver Dam Eye Study.Archives of ophthalmology (Chicago, Ill. : 1960) · 2009Article
Corrections and comments
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Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
No genes influencing oculometric phenotypes have yet been identified, despite it being well known that eye morphometry is involved in refraction and that genetics may play an important role. We have therefore performed a heritability analysis and genome-wide search (GWS) of biometric ocular traits in an isolated Sardinian population, assessing the genetic contribution and identifying the associated genetic loci. A complete eye examination including refraction and ocular biometry measurements such as axial length (AL), anterior chamber depth (ACD) and corneal curvature (CC), was performed on 789 subjects. Heritability analysis was carried out by means of parent-offspring regression and variance component models. Univariate and bivariate linkage analysis was performed by using 654 microsatellite markers spanning the genome. CC showed a mean heritability of 57%. AL and ACD were found to have significantly different variances (P<0.01) in males and females, so that heritability was calculated separately for each sex. AL had an estimated heritability in females of 31% and in males of 60%, whereas ACD had an estimated heritability of 47% in females and of 44% in males. In the GWS, the most suggestive evidence of linkage was identified on chromosome 2 for AL (LOD 2.64), on chromosome 1 for ACD (LOD 2.32) and on chromosomes 7, 2 and 3 for CC (LOD 2.50, 2.44 and 2.34, respectively). High heritability of eye morphometry traits was thus revealed. The identified loci are the first linkage signals available in ocular biometry. Notably, the observed significant differences in parental transmission deserve further study.
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