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ZJUS-B
Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology)  2010, Vol. 11 Issue (11): 836-841    DOI: 10.1631/jzus.B1000001
Biomedicine     
Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese
Yan-shu Yu, Lin-ling Wang, Ye Shen, Maurice K. H. Yap, Shea-ping Yip, Wei Han
Department of Ophthalmology, the First Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou 310003, China, School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China, Department of Health Technology and Informatics, The Hong Kong Polytechnic University, Hong Kong SAR, China
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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.

Key words： Myopia      All-trans-retinol dehydrogenase (RDH8)      Single nucleotide polymorphisms      Association study      Linkage disequilibrium      Genotype relative risk     
Received: 29 December 2009      Published: 04 November 2010
CLC:  R778  
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Ye Shen
Maurice K. H. Yap
Yan-shu Yu
Lin-ling Wang
Shea-ping Yip
Wei Han
Cite this article:

Yan-shu Yu, Lin-ling Wang, Ye Shen, Maurice K. H. Yap, Shea-ping Yip, Wei Han. Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese. Journal of Zhejiang University-SCIENCE B (Biomedicine & Biotechnology), 2010, 11(11): 836-841.

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http://www.zjujournals.com/xueshu/zjus-b/10.1631/jzus.B1000001     OR     http://www.zjujournals.com/xueshu/zjus-b/Y2010/V11/I11/836

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