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PMID: 19626135 Published · epublish English Journal Article Research Support, Non-U.S. Gov't

The retinoic acid receptor alpha (RARA) gene is not associated with myopia, hypermetropia, and ocular biometric measures.

Molecular vision ·Vol. 15 ·2009-07-17 ·页码 1390-7

Veerappan S, Schäche M, Pertile KK, Islam FM, Chen CY, Mitchell P, Dirani M, Baird PN

Abstract

The Retinoic Acid Receptor Alpha (RARA) gene is a potential candidate gene for myopia due to its differential expression in animal models during experimentally induced myopia. To test for whether RARA is associated with myopia we have undertaken a case-control study assessing for associations between RARA and myopia, hypermetropia, and ocular biometric measures. A total of 802 Anglo-Celtic individuals were genotyped. Five tag single nucleotide polymorphisms (tSNPs) in RARA with an r(2) of 0.8 and a minor allele frequency greater than 5% were selected for genotyping. Genotype frequencies of these 5 tSNPs were compared between individuals with emmetropia and those with myopia or hypermetropia. A quantitative analysis was also performed to assess associations with ocular biometric measures including axial length, corneal curvature and anterior chamber depth. We did not identify any significant association between tSNPs in RARA with either myopia or hypermetropia as qualitative traits. Neither did we identify any significant associations of these tSNPs with the quantitative traits of axial length, corneal curvature and anterior chamber depth. This is the first study to assess for associations between RARA and myopia, hypermetropia, and ocular biometric measures. Our findings suggest that variations in the nucleotide sequence of RARA are not associated with myopia, hypermetropia, or ocular biometric measures in our population.

MeSH 主题词
Biometry Demography Eye/pathology Female Genetic Predisposition to Disease Humans Hyperopia/genetics,physiopathology Linkage Disequilibrium/genetics Male Middle Aged Myopia/genetics,physiopathology Polymorphism, Single Nucleotide/genetics Receptors, Retinoic Acid/genetics Refraction, Ocular Retinoic Acid Receptor alpha
化学物质
RARA protein, human Receptors, Retinoic Acid Retinoic Acid Receptor alpha
作者与单位
共 8 位作者,点击展开单位 / ORCID
Veerappan S
Centre for Eye Research Australia, University of Melbourne, Royal Victorian Eye and Ear Hospital, 32 Gisborne Street, East Melbourne 3002, Australia.
Schäche M
Pertile K K
Islam F M A
Chen C Y
Mitchell P
Dirani M
Baird P N
Article Info
Journal
Molecular vision
Abbr.
Mol Vis
ISSN
1090-0535
Published
2009-07-17
电子出版
2009-00-17
页码
1390-7
Language
English
Country/Region
United States
NLM ID
9605351
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