Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese |
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| Authors: | Yu Yan-shu Wang Lin-ling Shen Ye Yap Maurice K H Yip Shea-ping Han Wei |
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| Institution: | (1) Department of Ophthalmology and Visual Science, Tokyo Medical and Dental University, 1-5-45 Yushima, Bunkyo-ku Tokyo, 113-8519, Japan;(2) Department of Clinical Trial Design and Management, Translational Research Center, Kyoto University Hospital, 54 Shogoin Kawara-cho, Sakyo-ku, Kyoto, Japan;(3) Department of Public Health, School of Medicine, Kurume University, 67 Asahimachi, Kurume, Fukuoka, Japan; |
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| Abstract: | Retinoic acid level in the retina/choroid is altered in induced myopia models. All-trans-retinol dehydrogenase (RDH8) is an important enzyme of retinoic acid metabolism. This study aimed to investigate the association
of the RDH8 gene with high myopia. Three single nucleotide polymorphisms (SNPs) RDH851 (rs2233789), RDH8E5a (rs1644731), and RDH855b
(rs3760753)] were selected, based on the linkage disequilibrium pattern of RDH8 from a previous study, and genotyped for 160 Han Chinese nuclear families with highly myopic (?10 diopters or worse) offspring
as well as in an independent group with 166 highly myopic cases (?10 diopters or worse) and 211 controls. Family-based association
analysis was performed using the family-based association test (FBAT) package, and genotype relative risk (GRR) was calculated
using the GenAssoc program. Population-based association analysis was performed using Chi-square test. These SNPs were in
linkage equilibrium with each other. SNPs RDH851 (rs2233789) and RDH8E5a (rs1644731) both did not show association with high
myopia. SNP RDH855b (rs3760753) demonstrated significant association (P=0.0269) with a GRR of 0.543 (95% confidence interval=0.304–0.968, P=0.038). The association became statistically insignificant, however, after multiple comparison correction. Haplotype analysis
did not show a significant association either. Population-based association analysis also showed no significant association
(P>0.05). Our family- and population-based data both suggest that the RDH8 gene is unlikely to be associated with high myopia in Chinese. |
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| Keywords: | Myopia All-trans-retinol dehydrogenase (RDH8) Single nucleotide polymorphisms Association study Linkage disequilibrium Genotype relative risk |
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