New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3
New susceptibility locus for high myopia is linked to the uromodulin-like 1 (UMODL1) gene region on chromosome 21q22.3
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DOI：
10.1038/eye.2008.152
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发表时间：
2009-01-01
期刊：
影响因子：
3.9
通讯作者：
Mizuki, N.
中科院分区：
文献类型：
--
作者：
Nishizaki, R.;Ota, M.;Mizuki, N.
目的利用27158个微卫星标记对D21 S 0083 i进行全基因组病例对照关联分析，确定D21 S 0083 i附近的一个潜在疾病易感基因的位置。在日本高中-方法使用分布在染色体21q22.3上D21 S 0083 i周围的39个SNP对520名高度近视患者和520名健康对照进行基因分型。结果仅1其中39个SNP位点（rs 2839471）经多重检验校正后有统计学意义（等位基因T：P = 0.00027，Pc = 0.01，OR = 1.684）。结论该SNP（rs 2839471）可能位于UMODL 1基因的重组区，可能是UMODL 1基因的突变位点。总之，该区域可能在高度近视的易感性中发挥关键作用，并且需要进一步确认UMODL 1可能导致近视的机制的研究和调查。
Purpose To ascertain and define the position of a potential disease susceptibility gene around D21S0083i prioritized during our previous whole genome case-control association analysis with 27158 microsatellite markers, in Japanese high-myopia patients.Methods 520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3.Results Only 1 SNP (rs2839471) of 39 SNPs was significant after correction for multiple testing (allele T: P = 0.00027, Pc = 0.01, OR = 1.684). The SNP ( rs2839471) did not reside in haplotype blocks constructed by the pair-wise linkage disequilibrium between the SNPs.Conclusions The SNP ( rs2839471) is suggested to be located in the frequent recombinant region within UMODL1. Together this region might play a critical role for susceptibility to high myopia, and warrants further confirming studies and investigations as to the mechanisms by which UMODL1 may contribute to myopia.