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X chromosome-wide association study of quantitative biomarkers from the Alzheimer’s Disease Neuroimaging Initiative study.
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- Author(s): Kai-Wen Wang; Yu-Xin Yuan; Bin Zhu; Yi Zhang; Yi-Fang Wei; Fan-Shuo Meng; Shun Zhang; Jing-Xuan Wang; Ji-Yuan Zhou
- Source:
Frontiers in Aging Neuroscience; 2023, p1-15, 15p- Subject Terms:
GENETICS of Alzheimer's disease; CEREBROSPINAL fluid examination; ALZHEIMER'S disease risk factors; CONFIDENCE intervals; SINGLE nucleotide polymorphisms; CROSS-sectional method; SCHIZOPHRENIA; SEX chromosomes; MOLECULAR pathology; QUANTITATIVE research; MAGNETIC resonance imaging; ALLELES; RISK assessment; GENOME-wide association studies; NEUROPSYCHOLOGICAL tests; GENETIC markers; RESEARCH funding; POSITRON emission tomography; QUESTIONNAIRES; DESCRIPTIVE statistics; COGNITIVE testing; DATA analysis software; LONGITUDINAL method; NEURORADIOLOGY; GENETIC profile; PHENOTYPES - Source:
- Additional Information
- Abstract: Introduction: Alzheimer’s disease (AD) is a complex neurodegenerative disease with high heritability. Compared to autosomes, a higher proportion of disorderassociated genes on X chromosome are expressed in the brain. However, only a few studies focused on the identification of the susceptibility loci for AD on X chromosome. Methods: Using the data from the Alzheimer’s Disease Neuroimaging Initiative Study, we conducted an X chromosome-wide association study between 16 AD quantitative biomarkers and 19,692 single nucleotide polymorphisms (SNPs) based on both the cross-sectional and longitudinal studies. Results: We identified 15 SNPs statistically significantly associated with different quantitative biomarkers of the AD. For the cross-sectional study, six SNPs (rs5927116, rs4596772, rs5929538, rs2213488, rs5920524, and rs5945306) are located in or near to six genes DMD, TBX22, LOC101928437, TENM1, SPANXN1, and ZFP92, which have been reported to be associated with schizophrenia or neuropsychiatric diseases in literature. For the longitudinal study, four SNPs (rs4829868, rs5931111, rs6540385, and rs763320) are included in or near to two genes RAC1P4 and AFF2, which have been demonstrated to be associated with brain development or intellectual disability in literature, while the functional annotations of other five novel SNPs (rs12157031, rs428303, rs5953487, rs10284107, and rs5955016) have not been found. Discussion: 15 SNPs were found statistically significantly associated with the quantitative biomarkers of the AD. Follow-up study in molecular genetics is needed to verify whether they are indeed related to AD. The findings in this article expand our understanding of the role of the X chromosome in exploring disease susceptibility, introduce new insights into the molecular genetics behind the AD, and may provide a mechanistic clue to further AD-related studies. [ABSTRACT FROM AUTHOR]
- Abstract: Copyright of Frontiers in Aging Neuroscience is the property of Frontiers Media S.A. and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)
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