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Gene-based rare allele analysis identified a risk gene of Alzheimer's disease.
Kim JH, Song P, Lim H, Lee JH, Lee JH, Park SA; Alzheimer’s Disease Neuroimaging Initiative. Kim JH, et al. PLoS One. 2014 Oct 20;9(10):e107983. doi: 10.1371/journal.pone.0107983. eCollection 2014. PLoS One. 2014. PMID: 25329708 Free PMC article.
A total of 4,171 cases and 9,358 controls were included. The genotype information of rare alleles was imputed using 1,000 genomes. We performed gene-based analysis of rare alleles (minor allele frequency3%). ...APOE and TREM …
A total of 4,171 cases and 9,358 controls were included. The genotype information of rare alleles was imputed using 1,000 geno …
Association of mitochondrial variants and haplogroups identified by whole exome sequencing with Alzheimer's disease.
Zhang X, Farrell JJ, Tong T, Hu J, Zhu C; Alzheimer's Disease Sequencing Project; Wang LS, Mayeux R, Haines JL, Pericak-Vance MA, Schellenberg GD, Lunetta KL, Farrer LA. Zhang X, et al. Alzheimers Dement. 2022 Feb;18(2):294-306. doi: 10.1002/alz.12396. Epub 2021 Jun 20. Alzheimers Dement. 2022. PMID: 34152079 Free PMC article.
INTRODUCTION: Findings regarding the association between mitochondrial DNA (mtDNA) variants and Alzheimer's disease (AD) are inconsistent. METHODS: We developed a pipeline for accurate assembly and variant calling in mitochondrial genomes embedded within whol …
INTRODUCTION: Findings regarding the association between mitochondrial DNA (mtDNA) variants and Alzheimer's disease (AD …
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer's disease.
Nho K, Horgusluoglu E, Kim S, Risacher SL, Kim D, Foroud T, Aisen PS, Petersen RC, Jack CR Jr, Shaw LM, Trojanowski JQ, Weiner MW, Green RC, Toga AW, Saykin AJ; ADNI. Nho K, et al. BMC Med Genomics. 2016 Aug 12;9 Suppl 1(Suppl 1):30. doi: 10.1186/s12920-016-0190-9. BMC Med Genomics. 2016. PMID: 27535542 Free PMC article.
METHODS: A WGS data set (N = 815) from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort was used in this analysis. 757 non-Hispanic Caucasian participants underwent WGS from a blood sample and high resolution T1-weighted structural MRI at …
METHODS: A WGS data set (N = 815) from the Alzheimer's Disease Neuroimaging Initiative (ADNI) cohort was used in this …
Association analysis of rare variants near the APOE region with CSF and neuroimaging biomarkers of Alzheimer's disease.
Nho K, Kim S, Horgusluoglu E, Risacher SL, Shen L, Kim D, Lee S, Foroud T, Shaw LM, Trojanowski JQ, Aisen PS, Petersen RC, Jack CR Jr, Weiner MW, Green RC, Toga AW, Saykin AJ; Alzheimer’s Disease Neuroimaging Initiative (ADNI). Nho K, et al. BMC Med Genomics. 2017 May 24;10(Suppl 1):29. doi: 10.1186/s12920-017-0267-0. BMC Med Genomics. 2017. PMID: 28589856 Free PMC article.
BACKGROUND: The APOE epsilon4 allele is the most significant common genetic risk factor for late-onset Alzheimer's disease (LOAD). ...METHODS: Whole genome sequencing (WGS) was performed on 817 blood DNA samples from the Alzheimer's …
BACKGROUND: The APOE epsilon4 allele is the most significant common genetic risk factor for late-onset Alzheimer's …
Analysis of whole genome sequenced cases and controls shows that the association of variants in TOMM40, BCAM, NECTIN2 and APOC1 with late onset Alzheimer's disease is driven by linkage disequilibrium with APOE epsilon2/epsilon3/epsilon4 alleles.
Curtis D; Alzheimer's Disease Neuroimaging Initiative. Curtis D, et al. J Neurogenet. 2021 Mar-Jun;35(2):59-66. doi: 10.1080/01677063.2020.1866569. Epub 2021 May 10. J Neurogenet. 2021. PMID: 33970751
Variants in APOE are associated with risk of late onset Alzheimer's disease (LOAD) but the magnitude of the effect has been reported to vary across ancestries. ...Previous analyses of exome-sequenced samples have identified other genes in …
Variants in APOE are associated with risk of late onset Alzheimer's disease (LOAD) but the magnitude of the effe …
Association of Early-Onset Alzheimer Disease With Elevated Low-Density Lipoprotein Cholesterol Levels and Rare Genetic Coding Variants of APOB.
Wingo TS, Cutler DJ, Wingo AP, Le NA, Rabinovici GD, Miller BL, Lah JJ, Levey AI. Wingo TS, et al. JAMA Neurol. 2019 Jul 1;76(7):809-817. doi: 10.1001/jamaneurol.2019.0648. JAMA Neurol. 2019. PMID: 31135820 Free PMC article.
IMPORTANCE: Early-onset Alzheimer disease (EOAD) is a rare form of Alzheimer disease (AD) with a large genetic basis that is only partially understood. ...Approximately 3% of EOAD cases carried known AD-causing mutations. Gene-based …
IMPORTANCE: Early-onset Alzheimer disease (EOAD) is a rare form of Alzheimer disease (AD) with a large ge …
Variants in the Niemann-pick type C genes are not associated with Alzheimer's disease: a large case-control study in the Chinese population.
Xiao X, Liao X, Zhou Y, Weng L, Guo L, Zhou L, Wang X, Liu X, Liu H, Bi X, Xu T, Zhu Y, Yang Q, Zhang S, Hao X, Liu Y, Zhang W, Li J, Shen L, Jiao B. Xiao X, et al. Neurobiol Aging. 2022 Aug;116:49-54. doi: 10.1016/j.neurobiolaging.2022.04.008. Epub 2022 Apr 20. Neurobiol Aging. 2022. PMID: 35567899
Despite the similar clinical and pathological features between Niemann-Pick type C (NPC) disease and Alzheimer's disease (AD), few studies have investigated the role of NPC genes in AD. ...Common variant (MAF0.01) based association analysis …
Despite the similar clinical and pathological features between Niemann-Pick type C (NPC) disease and Alzheimer's dis …
Region-based analysis with functional annotation identifies genes associated with cognitive function in South Asians from India.
Abu-Amara H, Zhao W, Li Z, Leung YY, Schellenberg GD, Wang LS, Moorjani P, Dey AB, Dey S, Zhou X, Gross AL, Lee J, Kardia SLR, Smith JA. Abu-Amara H, et al. medRxiv [Preprint]. 2024 Jan 18:2024.01.18.24301482. doi: 10.1101/2024.01.18.24301482. medRxiv. 2024. PMID: 38293024 Free PMC article. Preprint.
The prevalence of dementia among South Asians across India is approximately 7.4% in those 60 years and older, yet little is known about genetic risk factors for dementia in this population. Most known risk loci for Alzheimer's disease (AD) have …
The prevalence of dementia among South Asians across India is approximately 7.4% in those 60 years and older, yet little is known about gene …
Region-based analysis with functional annotation identifies genes associated with cognitive function in South Asians from India.
Abu-Amara H, Zhao W, Li Z, Leung YY, Schellenberg GD, Wang LS, Moorjani P, Dey AB, Dey S, Zhou X, Gross AL, Lee J, Kardia SLR, Smith JA. Abu-Amara H, et al. Res Sq [Preprint]. 2024 Aug 10:rs.3.rs-4712660. doi: 10.21203/rs.3.rs-4712660/v1. Res Sq. 2024. PMID: 39149469 Free PMC article. Preprint.
The prevalence of dementia among South Asians across India is approximately 7.4% in those 60 years and older, yet little is known about genetic risk factors for dementia in this population. Most known risk loci for Alzheimer's disease (AD) have …
The prevalence of dementia among South Asians across India is approximately 7.4% in those 60 years and older, yet little is known about gene …
LMTK2 and CRB1 are two novel risk genes for Alzheimer's disease in Han Chinese.
Xiao X, Liu H, Yao R, Li Y, Liao X, Liu Y, Zhou Y, Wang J, Tang B, Jiao B, Li J, Shen L, Luo S. Xiao X, et al. J Prev Alzheimers Dis. 2025 May;12(5):100087. doi: 10.1016/j.tjpad.2025.100087. Epub 2025 Feb 7. J Prev Alzheimers Dis. 2025. PMID: 39922756 Free article.
BACKGROUND: Alzheimer's disease (AD) is the most prevalent neurodegenerative disease with a substantial genetic background. ...Gene-level aggregation testing identified that rare damaging variants in LMTK2 and CRB1 conferred ris …
BACKGROUND: Alzheimer's disease (AD) is the most prevalent neurodegenerative disease with a substantial genetic …