Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort

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2024年2月16日

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María Eugenia Sáez,
Ainhoa García-Sánchez,
Itziar de Rojas,
Emilio Alarcón-Martín,
Joan Martínez,
Amanda Cano,
Pablo García-González,
Raquel Puerta,
Clàudia Olivé,
Maria Capdevila,
Fernando García-Gutiérrez,
Miguel Castilla-Martí,
Luis Castilla-Martí,
Ana Espinosa,
Montserrat Alegret,
Mario Ricciardi,
Vanesa Pytel,
Sergi Valero,
Lluís Tárraga,
Mercè Boada,
Agustín Ruiz,
Marta Marquié

摘要

Background

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.

Methods

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.

Results

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.

Conclusions

Our study does not support the existence of a genetic link between dementia and retinal thickness.