An Overview of Genome-Wide Association Studies in Alzheimer’s Disease

Shen, Luxi; Jia, Jianping

doi:10.1007/s12264-016-0011-3

Cited by 80 publications

(45 citation statements)

References 75 publications

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“…There is a high degree of overlap between functional gene categories because of pleiotropic actions of molecules on behavior. The array was subsequently complemented with the addition of variants in candidate genes (24 SNPs) that have been previously associated with increased risk of LOAD [44] and variants in candidate genes (seven SNPs) reported as associated with episodic memory performance [11] , [12] , [13] , [19] .…”

Section: Methodsmentioning

confidence: 99%

A dopamine receptor genetic variant enhances perceptual speed in cognitive healthy subjects

Barral

Habeck

Gazes

et al. 2017

A&D Transl Res & Clin Interv

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IntroductionCognition is under strong genetic control, yet the specific genes are unknown.MethodsOne hundred and fifty-three cognitive healthy European subjects from the Reference Abilities Study (RANN) were genotyped for 1,160 variants within 446 neuropsychiatric genes. Adjusted linear regression models evaluated the association between the genetic variants and four reference abilities (Vocabulary, Episodic Memory, Perceptual Speed, and Reasoning).ResultsOne hundred and fifty-nine variants nominally were found significant in the RANN cohort and re-evaluated in an independent cohort of 868 cognitive healthy subjects from the Religious Orders Study and Rush Memory Aging Project. Meta-analysis yielded a Bonferroni adjusted statistically significant association between perceptual speed and a variant located in the promoter of the dopamine receptor D4 gene, rs3756450 (β = 0.23, standard error = 0.05, Pmeta = 2.3 × 10−5).DiscussionOur data suggest that genetic variation in a dopamine pathway gene influences perceptual speed performance in cognitively healthy individuals.

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Section: Methodsmentioning

confidence: 99%

A dopamine receptor genetic variant enhances perceptual speed in cognitive healthy subjects

Barral

Habeck

Gazes

et al. 2017

A&D Transl Res & Clin Interv

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“…In addition, genetic factors for the development of dementia have also been examined, with the apolipoprotein E ( APOE ) genotype being identified as the most potent genetic risk factor for the development of AD [ 6 , 7 ]. Moreover, large-scale genome-wide association studies conducted mainly in Europe and the USA have identified several AD-susceptible genes, including the CR1 and CLU genes [ 7 – 9 ]. On the other hand, lifestyles and genetic backgrounds are known to differ among different countries or ethnicities.…”

Section: Introductionmentioning

confidence: 99%

Study design and baseline characteristics of a population-based prospective cohort study of dementia in Japan: the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD)

Ninomiya

Nakaji

Maeda

et al. 2020

Environ Health Prev Med

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Background The burden of dementia is growing rapidly and has become a medical and social problem in Japan. Prospective cohort studies have been considered an effective methodology to clarify the risk factors and the etiology of dementia. We aimed to perform a large-scale dementia cohort study to elucidate environmental and genetic risk factors for dementia, as well as their interaction. Methods The Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD) is a multisite, population-based prospective cohort study of dementia, which was designed to enroll approximately 10,000 community-dwelling residents aged 65 years or older from 8 sites in Japan and to follow them up prospectively for at least 5 years. Baseline exposure data, including lifestyles, medical information, diets, physical activities, blood pressure, cognitive function, blood test, brain magnetic resonance imaging (MRI), and DNA samples, were collected with a pre-specified protocol and standardized measurement methods. The primary outcome was the development of dementia and its subtypes. The diagnosis of dementia was adjudicated by an endpoint adjudication committee using standard criteria and clinical information according to the Diagnostic and Statistical Manual of Mental Disorders, 3rd Revised Edition. For brain MRI, three-dimensional acquisition of T1-weighted images was performed. Individual participant data were pooled for data analyses. Results The baseline survey was conducted from 2016 to 2018. The follow-up surveys are ongoing. A total of 11,410 individuals aged 65 years or older participated in the study. The mean age was 74.4 years, and 41.9% were male. The prevalence of dementia at baseline was 8.5% in overall participants. However, it was 16.4% among three sites where additional home visit and/or nursing home visit surveys were performed. Approximately two-thirds of dementia cases at baseline were Alzheimer’s disease. Conclusions The prospective cohort data from the JPSC-AD will provide valuable insights regarding the risk factors and etiology of dementia as well as for the development of predictive models and diagnostic markers for the future onset of dementia. The findings of this study will improve our understanding of dementia and provide helpful information to establish effective preventive strategies for dementia in Japan.

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“…Apart from these, several other genes were found to be associated with LOAD but not much information on their roles is available so far. Reports on specific studies have been summarized by Bertram and Tanzi [73], Tosto and Reitz [74] and recently by Shen and Jia [75].…”

Section: Gwas In Alzheimer's Diseasementioning

confidence: 99%

Neurology in the Light of Genomics: Application of NGS and GWAS in Understanding Complex Neurological Disorders

Banerjee¹,

Arora²

2018

Neuropsychiatry

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Understanding structure and function of human brain remains the most intriguing region of advanced research. Neurological disorders also constitute a major proportion of ongoing brain associated research as several disorders are still not known in a comprehensive manner from a molecular, causative and functional perspective. Earlier linkage studies were considered the most reliable means to answer certain neurogenetics related questions in relevance to heredity and disease inheritance. Technical limitations and ethical issues always hindered the path of deriving more useful insight and understanding neurological diseases such as Schizophrenia, Epilepsy, Parkinson's disease, Alzheimer's disease, Bipolar Disorder, ADHD, ALS and other neurological issues. Improvement in the interdisciplinary approaches including genomics based analyses such as NGS, GWAS, GCTA enabled us to explore and understand the causes and factors responsible for onset of neurological conditions and effect of such neurological conditions on human well-being. This review summarizes the recent and ongoing research carried out globally to unravel the mysteries of various neurological disorders employing latest genomics based technologies. The technological background and disease specific implementations are described in detail.

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An Overview of Genome-Wide Association Studies in Alzheimer’s Disease

Cited by 80 publications

References 75 publications

A dopamine receptor genetic variant enhances perceptual speed in cognitive healthy subjects

A dopamine receptor genetic variant enhances perceptual speed in cognitive healthy subjects

Study design and baseline characteristics of a population-based prospective cohort study of dementia in Japan: the Japan Prospective Studies Collaboration for Aging and Dementia (JPSC-AD)

Neurology in the Light of Genomics: Application of NGS and GWAS in Understanding Complex Neurological Disorders

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