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Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer’s disease at 12p12.1

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Bibliographic Details
Title: Genome-Wide association study of quantitative biomarkers identifies a novel locus for alzheimer’s disease at 12p12.1
Authors: Brian Lee, Xiaohui Yao, Li Shen, for the Alzheimer’s Disease Neuroimaging Initiative
Source: BMC Genomics, Vol 23, Iss 1, Pp 1-13 (2022)
Publisher Information: BMC, 2022.
Publication Year: 2022
Collection: LCC:Biotechnology
LCC:Genetics
Subject Terms: Alzheimer’s disease, Genome-wide association study, Quantitative biomarkers, Cognitive traits, Imaging traits, Biotechnology, TP248.13-248.65, Genetics, QH426-470
Description: Abstract Background Genetic study of quantitative biomarkers in Alzheimer’s Disease (AD) is a promising method to identify novel genetic factors and relevant endophenotypes, which provides valuable information to deconvolute mechanistic complexity and better understand disease subtypes. Results Using the data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits. We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume). Additional mediation and interaction analyses investigated the relationships among this SNP, relevant biomarkers, and clinical diagnosis, confirming and further elaborating the genetic effects seen in the GWAS. Conclusion Our GWAS not only affirms key AD genes but also suggests the promising role of the SNP rs5011804 due to its associations with several AD cognitive and imaging outcomes. The SNP rs5011804 has a reported association with adult asthma and slightly affects intracranial volume but has not been associated with AD before. Our novel findings contribute to a more comprehensive view of the molecular mechanism behind AD.
Document Type: article
File Description: electronic resource
Language: English
ISSN: 1471-2164
Relation: https://doaj.org/toc/1471-2164
DOI: 10.1186/s12864-021-08269-8
Access URL: https://doaj.org/article/82a8c64461e34e7da0e92a129eb6eec5
Accession Number: edsdoj.82a8c64461e34e7da0e92a129eb6eec5
Database: Directory of Open Access Journals
Description
Abstract:Abstract Background Genetic study of quantitative biomarkers in Alzheimer’s Disease (AD) is a promising method to identify novel genetic factors and relevant endophenotypes, which provides valuable information to deconvolute mechanistic complexity and better understand disease subtypes. Results Using the data from the Alzheimer’s Disease Neuroimaging Initiative (ADNI), we performed a genome-wide association study (GWAS) between 565,373 single nucleotide polymorphisms (SNPs) and 16 key AD biomarkers from 1,576 subjects at four visits. We identified a novel locus rs5011804 at 12p12.1 significantly associated with several AD biomarkers, including three cognitive traits (CDRSB, FAQ, ADAS13) and one imaging trait (fusiform volume). Additional mediation and interaction analyses investigated the relationships among this SNP, relevant biomarkers, and clinical diagnosis, confirming and further elaborating the genetic effects seen in the GWAS. Conclusion Our GWAS not only affirms key AD genes but also suggests the promising role of the SNP rs5011804 due to its associations with several AD cognitive and imaging outcomes. The SNP rs5011804 has a reported association with adult asthma and slightly affects intracranial volume but has not been associated with AD before. Our novel findings contribute to a more comprehensive view of the molecular mechanism behind AD.
ISSN:14712164
DOI:10.1186/s12864-021-08269-8