A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25.
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近视和远视位于连续折射的两端，连续折射是眼睛聚焦光的能力的量度，这是视觉障碍（异常时）的重要原因，并且是高度遗传的特征。我们对来自TwinsUK队列的4，270名个体进行了一项屈光不正的全基因组关联研究。我们发现了15 q25上与屈光不正相关的SNP（rs 8027411，P = 7.91 × 10−8）。我们在6个欧洲血统的成年队列中复制了这种关联，共有13，414人（合并P = 2.07 × 10−9）。该基因座与RASGRF 1的转录起始位点重叠，RASGRF 1在神经元和视网膜中高度表达，并且先前已涉及视网膜功能和记忆巩固。Rasgrf 1 −/−小鼠显示出较重的平均晶状体透镜（P = 0.001）。在15 q25上识别屈光不正的易感性位点对于表征负责视觉障碍的最常见原因的分子机制将是重要的。
Myopia and hyperopia are at opposite ends of the continuum of refraction, the measure of the eye’s ability to focus light, which is an important cause of visual impairment (when aberrant) and is a highly heritable trait. We conducted a genome-wide association study for refractive error in 4,270 individuals from the TwinsUK cohort. We identified SNPs on 15q25 associated with refractive error (rs8027411, P = 7.91 × 10−8). We replicated this association in six adult cohorts of European ancestry with a combined 13,414 individuals (combined P = 2.07 × 10−9). This locus overlaps the transcription initiation site of RASGRF1, which is highly expressed in neurons and retina and has previously been implicated in retinal function and memory consolidation. Rasgrf1−/− mice show a heavier average crystalline lens (P = 0.001). The identification of a susceptibility locus for refractive error on 15q25 will be important in characterizing the molecular mechanism responsible for the most common cause of visual impairment.
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