Nishizaki R, Ota M, Inoko H, Meguro A, Shiota T, Okada E, Mok J, Oka A, Ohno S, Mizuki N
Department of Ophthalmology, Yokohama City University School of Medicine, Kanagawa, Japan.
Eye (Lond). 2009 Jan;23(1):222-9. doi: 10.1038/eye.2008.152. Epub 2008 Jun 6.
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 27,158 microsatellite markers, in Japanese high-myopia patients.
520 high myopic patients and 520 healthy controls were genotyped using 39 SNPs distributed around D21S0083i on chromosome 21q22.3.
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.
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.
在我们之前使用27,158个微卫星标记进行的全基因组病例对照关联分析中，确定并定义日本高度近视患者中位于D21S0083i附近的一个潜在疾病易感基因的位置。
使用分布在21号染色体21q22.3上D21S0083i周围的39个单核苷酸多态性（SNP）对520名高度近视患者和520名健康对照进行基因分型。
在进行多重检验校正后，39个SNP中只有1个SNP（rs2839471）具有显著性（等位基因T：P = 0.00027，Pc = 0.01，OR = 1.684）。该SNP（rs2839471）并不位于由这些SNP之间的成对连锁不平衡构建的单倍型块中。
SNP（rs2839471）被认为位于UMODL1基因内的高频重组区域。总体而言，该区域可能在高度近视易感性中起关键作用，并且有必要进一步进行确认研究以及对UMODL1可能导致近视的机制展开调查。
