The Genetic Research in Alzheimer Disease (GERALD) Initiative Finds rs9320913 as a Neural eQTL of lincRNA AL589740.1.
Lidia Lopez-GutierrezJose Maria García-AlbercaSilvia MendozaEsther GrisMaría Paz De la GuíaJosé Manuel Marin-CarmonaEmilio Alarcón-MartínAlmudena LobatoJose Manuel Cruz-GameroLaura CuraOlga OcejoJavier TorrecillaMaría Dolores NietoConcepción UrbanoNuria ParejaMacarena LuqueMaría García-PeraltaRosario CarrillejoJosé Luis RoyoPublished in: International journal of Alzheimer's disease (2021)
Alzheimer's disease is the most common cause of dementia worldwide, and longitudinal studies are crucial to find the factors affecting disease development. Here, we describe a novel initiative from southern Spain designed to contribute in the identification of the genetic component of the cognitive decline of Alzheimer's disease patients. The germline variant rs9320913 is a C>A substitution mapping within a gene desert. Although it has been previously associated to a higher educational achievement and increased fluid intelligence, its role on Alzheimer's disease risk and progression remains elusive. A total of 407 subjects were included in the study, comprising 153 Alzheimer disease patients and 254 healthy controls. We have explored the rs9320913 contribution to both Alzheimer disease risk and progression according to the Mini-Mental State Exams. We found that rs9320913 maps within a central nervous system lincRNA AL589740.1. eQTL results show that rs9320913 correlated with the brain-frontal cortex (beta = -0.15, p value = 0.057) and brain-spinal cord (beta of -0.23, p value = 0.037). We did not find rs9320913 to be associated to AD risk, although AA patients seemed to exhibit a less pronounced Mini-Mental State Exam score decline.
Keyphrases
- cognitive decline
- mild cognitive impairment
- end stage renal disease
- spinal cord
- newly diagnosed
- ejection fraction
- chronic kidney disease
- gene expression
- genome wide
- mental health
- functional connectivity
- resting state
- transcription factor
- mass spectrometry
- dna repair
- copy number
- dna damage
- high resolution
- neuropathic pain
- cerebral ischemia