Alzheimer's research & therapy · 2024
Genome-wide association study and polygenic risk scores of retinal thickness across the cognitive continuum: data from the NORFACE cohort.
МетаанализСтатьяПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Sáez María Eugenia, García-Sánchez Ainhoa, de Rojas Itziar, Alarcón-Martín Emilio, Martínez Joan, Cano Amanda, García-González Pablo, Puerta Raquel, Olivé Clàudia, Capdevila Maria, García-Gutiérrez Fernando, Castilla-Martí Miguel, Castilla-Martí Luis, Espinosa Ana, Alegret Montserrat, Ricciardi Mario, Pytel Vanesa, Valero Sergi, Tárraga Lluís, Boada Mercè, Ruiz Agustín, Marquié Marta
Аннотация
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.
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.