European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, Cambridge, United Kingdom.
School of Life Course Sciences, Section of Ophthalmology, King's College London, London, United Kingdom.
PLoS Genet. 2021 May 12;17(5):e1009497. doi: 10.1371/journal.pgen.1009497. eCollection 2021 May.
Optical Coherence Tomography (OCT) enables non-invasive imaging of the retina and is used to diagnose and manage ophthalmic diseases including glaucoma. We present the first large-scale genome-wide association study of inner retinal morphology using phenotypes derived from OCT images of 31,434 UK Biobank participants. We identify 46 loci associated with thickness of the retinal nerve fibre layer or ganglion cell inner plexiform layer. Only one of these loci has been associated with glaucoma, and despite its clear role as a biomarker for the disease, Mendelian randomisation does not support inner retinal thickness being on the same genetic causal pathway as glaucoma. We extracted overall retinal thickness at the fovea, representative of foveal hypoplasia, with which three of the 46 SNPs were associated. We additionally associate these three loci with visual acuity. In contrast to the Mendelian causes of severe foveal hypoplasia, our results suggest a spectrum of foveal hypoplasia, in part genetically determined, with consequences on visual function.
光学相干断层扫描（OCT）可对视网膜进行非侵入性成像，用于诊断和治疗包括青光眼在内的眼部疾病。我们利用来自 31434 名英国生物库参与者的 OCT 图像得出的表型，进行了首次针对内视网膜形态的大规模全基因组关联研究。我们确定了 46 个与视网膜神经纤维层或神经节细胞内丛状层厚度相关的位点。这些位点中只有一个与青光眼有关，尽管它作为该疾病的生物标志物的作用很明确，但孟德尔随机化并不支持内视网膜厚度与青光眼处于相同的遗传因果途径上。我们提取了黄斑中心凹的总视网膜厚度，代表了黄斑发育不良，其中 46 个 SNP 中的三个与黄斑发育不良有关。我们还将这三个位点与视力相关联。与严重黄斑发育不良的孟德尔病因相反，我们的结果表明存在部分由遗传决定的黄斑发育不良谱，对视觉功能有影响。
