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Investigation of the association between all-trans-retinol dehydrogenase (RDH8) polymorphisms and high myopia in Chinese
  • ISSN号:1673-1581
  • 期刊名称:《浙江大学学报:B卷英文版》
  • 分类:R778[医药卫生—眼科;医药卫生—临床医学]
  • 作者机构:[1]Department of Ophthalmology, the First Affiliated Hospital School of Medicine, Zhejiang University, Hangzhou 310003, China, [2]School of Optometry, The Hong Kong Polytechnic University, Hong Kong SAR, China, [3]Department of Health Technology and Informaties, The Hong Kong Polytechnic University, Hong Kong SAR, China
  • 相关基金:Project supported by the National Natural Science Foundation of China (No. 30600693), the Qianjiang Talent Project of Zhejiang Province (No. 2010R10068), and the Hong Kong Polytechnic University (No. J-BB7P), China
中文摘要:

在视网膜 / 脉络膜的 Retinoic 酸水平在导致的近视模型被改变。All-trans-retinol 脱氢酶(RDH8 ) 是 retinoic 酸新陈代谢的重要的酶。这研究试图与高近视调查 RDH8 基因的协会。三单个核苷酸多型性( SNP )[ RDH851 ( rs2233789 ), RDH8E5a ( rs1644731 ),和 RDH855b ( rs3760753 )]被选择基于从以前的研究的 RDH8 的连接不平衡模式,并且为 160 个汉中国原子家庭与的 genotyped 高度近视(? 10 屈光度或更坏)象在有 166 个高度近视的案例的一个独立的组一样的后代(? 10 屈光度或更坏)并且 211 控制。基于家庭的协会分析用基于家庭的协会测试(FBAT ) 被执行包裹,和遗传型亲戚风险(GRR ) 用 GenAssoc 节目被计算。基于人口的协会分析用 Chi 平方测试被执行。这些 SNP 在与对方一起的连接平衡。SNP RDH851 (rs2233789 ) 和 RDH8E5a (rs1644731 ) 两个都没与高近视显示出协会。SNP RDH855b (rs3760753 ) 与 0.543 的 GRR 表明了重要协会(P=0.0269 )(95% 信心 interval=0.3040.968, P=0.038 ) 。然而,协会在多重比较修正以后变得统计上不足道。Haplotype 分析也没显示出一个重要协会。基于人口的协会分析也没显示出重要协会(P > 0.05 ) 。我们的基于家庭、基于人口的数据两个都建议 RDH8 基因是不大可能的用汉语与高近视被联系。

英文摘要:

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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期刊信息
  • 《浙江大学学报:B卷英文版》
  • 中国科技核心期刊
  • 主管单位:
  • 主办单位:浙江大学
  • 主编:
  • 地址:杭州玉古路20号,浙江大学学报《英文版》编辑部
  • 邮编:310027
  • 邮箱:jzus@zju.edu.cn
  • 电话:0571-87952276 87952331
  • 国际标准刊号:ISSN:1673-1581
  • 国内统一刊号:ISSN:33-1356/Q
  • 邮发代号:
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  • 被引量:323