Several studies have reported a relationship between retinal thickness and dementia. Therefore, optical coherence tomography (OCT) has been proposed as an early diagnosis method for Alzheimer’s disease (AD). In this study, we performed a genome-wide association study (GWAS) aimed at identifying genes associated with retinal nerve fiber layer (RNFL) and ganglion cell inner plexiform layer (GCIPL) thickness assessed by OCT and exploring the relationships between the spectrum of cognitive decline (including AD and non-AD cases) and retinal thickness. RNFL and GCIPL thickness at the macula were determined using two different OCT devices (Triton and Maestro). These determinations were tested for association with common single nucleotide polymorphism (SNPs) using adjusted linear regression models and combined using meta-analysis methods. Polygenic risk scores (PRSs) for retinal thickness and AD were generated. Several genetic loci affecting retinal thickness were identified across the genome in accordance with previous reports. The genetic overlap between retinal thickness and dementia, however, was weak and limited to the GCIPL layer; only those observable with all-type dementia cases were considered. Our study does not support the existence of a genetic link between dementia and retinal thickness.

中文翻译：

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全基因组关联研究和认知连续体中视网膜厚度的多基因风险评分：来自 NORFACE 队列的数据

几项研究报告了视网膜厚度与痴呆之间的关系。因此，光学相干断层扫描（OCT）被提出作为阿尔茨海默病（AD）的早期诊断方法。在这项研究中，我们进行了全基因组关联研究（GWAS），旨在识别与 OCT 评估的视网膜神经纤维层（RNFL）和神经节细胞内丛状层（GCIPL）厚度相关的基因，并探索认知谱之间的关系。下降（包括 AD 和非 AD 病例）和视网膜厚度。使用两种不同的 OCT 设备（Triton 和 Maestro）测定黄斑处的 RNFL 和 GCIPL 厚度。使用调整后的线性回归模型测试这些测定与常见单核苷酸多态性 (SNP) 的关联，并使用荟萃分析方法进行组合。生成了视网膜厚度和 AD 的多基因风险评分 (PRS)。根据之前的报告，在整个基因组中确定了几个影响视网膜厚度的遗传位点。然而，视网膜厚度和痴呆之间的遗传重叠很弱，并且仅限于 GCIPL 层。仅考虑那些可观察到的所有类型的痴呆病例。我们的研究不支持痴呆和视网膜厚度之间存在遗传联系。