ArticleMolecular vision2012
Endophenotyping reveals differential phenotype-genotype correlations between myopia-associated polymorphisms and eye biometric parameters.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Phenotypic Consequences of the GJD2 Risk Genotype in Myopia Development.Investigative ophthalmology & visual science · 2021Article
- Association of eleven single nucleotide polymorphisms with refractive disorders from Eskisehir, Turkey.International journal of ophthalmology · 2021Article
- MYP2 locus genes: Sequence variations, genetic association studies and haplotypic association in patients with High Myopia.International journal of biochemistry and molecular biology · 2021Article
- Altered Expression of GJD2 Messenger RNA and the Coded Protein Connexin 36 in Negative Lens-induced Myopia of Guinea Pigs.Optometry and vision science : official publication of the American Academy of Optometry · 2020Article
- Article
- Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population.Human mutation · 2018Article
- Insight into the molecular genetics of myopia.Molecular vision · 2017Review
- Heritability of Choroidal Thickness in the Amish.Ophthalmology · 2016Article
- Article
- Hepatocyte growth factor genetic variations and primary angle-closure glaucoma in the Han Chinese population.PloS one · 2013Article
- No association of age-related maculopathy susceptibility protein 2/HtrA serine peptidase 1 or complement factor H polymorphisms with early age-related maculopathy in a Chinese cohort.Molecular vision · 2013Article
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo investigate the association with ocular biometric parameters in myopia-associated single nucleotide polymorphisms (SNPs) of the gap junction protein delta 2 (GJD2), insulin-like growth factor-1 (IGF1) and hepatocyte growth factor (HGF) genes in two geographically different Chinese cohorts.
methodsIn 814 unrelated Han Chinese individuals aged above 50 years including 362 inland residents and 432 island dwellers, comprehensive ophthalmic examinations were performed. Three SNPs, including GJD2 rs634990, IGF1 rs6214, and HGF rs3735520, were genotyped. Genetic association with ocular biometric parameters was analyzed in individual cohorts, using linear regression controlled for sex and age. Common associations shared by the two cohorts were revealed by meta-analysis.
resultsMeta-analysis showed that GJD2 rs634990 alone was not associated with any biometric parameters (adjusted p>0.645). The T allele of IGF1 rs6214 was specifically associated with thicker lens (β±SE=0.055±0.022, adjusted p=0.034). The A allele of HGF rs3735520 was associated with longer vitreous chamber depth (β±SE=0.143±0.060, adjusted p=0.050). Significant interaction between HGF rs3735520 and GJD2 rs634990 was found in association with axial length and vitreous chamber depth (adjusted p=0.003 and 0.033, respectively), and possibly with spherical error (adjusted p=0.056).
conclusionsOur endophenotyping analysis showed differential association between selected myopia-associated genes and ocular biometric parameters in our Chinese cohorts, which may underline substantial but diversified effects of these genes and their interaction on the development of eye structure and etiology of myopia.
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22509107PMC3324351W1571675495What OpenQuestion holds
Registered trials
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