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Mutations modifying sporadic Alzheimer's disease age of onset

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Mutations modifying sporadic Alzheimer's disease age of onset. / Vélez, Jorge I; Lopera, Francisco; Patel, Hardip R; Johar, Angad S; Cai, Yeping; Rivera, Dora; Tobón, Carlos; Villegas, Andrés; Sepulveda-Falla, Diego; Lehmann, Shaun G; Easteal, Simon; Mastronardi, Claudio A; Arcos-Burgos, Mauricio.

In: AM J MED GENET B, Vol. 171, No. 8, 12.2016, p. 1116-1130.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Vélez, JI, Lopera, F, Patel, HR, Johar, AS, Cai, Y, Rivera, D, Tobón, C, Villegas, A, Sepulveda-Falla, D, Lehmann, SG, Easteal, S, Mastronardi, CA & Arcos-Burgos, M 2016, 'Mutations modifying sporadic Alzheimer's disease age of onset', AM J MED GENET B, vol. 171, no. 8, pp. 1116-1130. https://doi.org/10.1002/ajmg.b.32493

APA

Vélez, J. I., Lopera, F., Patel, H. R., Johar, A. S., Cai, Y., Rivera, D., Tobón, C., Villegas, A., Sepulveda-Falla, D., Lehmann, S. G., Easteal, S., Mastronardi, C. A., & Arcos-Burgos, M. (2016). Mutations modifying sporadic Alzheimer's disease age of onset. AM J MED GENET B, 171(8), 1116-1130. https://doi.org/10.1002/ajmg.b.32493

Vancouver

Vélez JI, Lopera F, Patel HR, Johar AS, Cai Y, Rivera D et al. Mutations modifying sporadic Alzheimer's disease age of onset. AM J MED GENET B. 2016 Dec;171(8):1116-1130. https://doi.org/10.1002/ajmg.b.32493

Bibtex

@article{1b113c037a18454b837dea7ea99c9731,
title = "Mutations modifying sporadic Alzheimer's disease age of onset",
abstract = "The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD. We identified more than 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the AOO. These variants are harbored in genes implicated in neuron apoptosis, neurogenesis, inflammatory processes linked to AD, oligodendrocyte differentiation, and memory processes. This set of new genes harboring these mutations could be of importance for prediction, follow-up and eventually as therapeutical targets of AD. {\textcopyright} 2016 Wiley Periodicals, Inc.",
keywords = "Age of Onset, Aged, Alzheimer Disease/genetics, Exome, Female, Genetic Predisposition to Disease/genetics, Genome-Wide Association Study/methods, Genotype, Humans, Male, Middle Aged, Mutation",
author = "V{\'e}lez, {Jorge I} and Francisco Lopera and Patel, {Hardip R} and Johar, {Angad S} and Yeping Cai and Dora Rivera and Carlos Tob{\'o}n and Andr{\'e}s Villegas and Diego Sepulveda-Falla and Lehmann, {Shaun G} and Simon Easteal and Mastronardi, {Claudio A} and Mauricio Arcos-Burgos",
note = "{\textcopyright} 2016 Wiley Periodicals, Inc.",
year = "2016",
month = dec,
doi = "10.1002/ajmg.b.32493",
language = "English",
volume = "171",
pages = "1116--1130",
journal = "AM J MED GENET B",
issn = "1552-4841",
publisher = "Wiley-Liss Inc.",
number = "8",

}

RIS

TY - JOUR

T1 - Mutations modifying sporadic Alzheimer's disease age of onset

AU - Vélez, Jorge I

AU - Lopera, Francisco

AU - Patel, Hardip R

AU - Johar, Angad S

AU - Cai, Yeping

AU - Rivera, Dora

AU - Tobón, Carlos

AU - Villegas, Andrés

AU - Sepulveda-Falla, Diego

AU - Lehmann, Shaun G

AU - Easteal, Simon

AU - Mastronardi, Claudio A

AU - Arcos-Burgos, Mauricio

N1 - © 2016 Wiley Periodicals, Inc.

PY - 2016/12

Y1 - 2016/12

N2 - The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD. We identified more than 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the AOO. These variants are harbored in genes implicated in neuron apoptosis, neurogenesis, inflammatory processes linked to AD, oligodendrocyte differentiation, and memory processes. This set of new genes harboring these mutations could be of importance for prediction, follow-up and eventually as therapeutical targets of AD. © 2016 Wiley Periodicals, Inc.

AB - The identification of mutations modifying the age of onset (AOO) in Alzheimer's disease (AD) is crucial for understanding the natural history of AD and, therefore, for early interventions. Patients with sporadic AD (sAD) from a genetic isolate in the extremes of the AOO distribution were whole-exome genotyped. Single- and multi-locus linear mixed-effects models were used to identify functional variants modifying AOO. A posteriori enrichment and bioinformatic analyses were applied to evaluate the non-random clustering of the associate variants to physiopathological pathways involved in AD. We identified more than 20 pathogenic, genome-wide statistically significant mutations of major modifier effect on the AOO. These variants are harbored in genes implicated in neuron apoptosis, neurogenesis, inflammatory processes linked to AD, oligodendrocyte differentiation, and memory processes. This set of new genes harboring these mutations could be of importance for prediction, follow-up and eventually as therapeutical targets of AD. © 2016 Wiley Periodicals, Inc.

KW - Age of Onset

KW - Aged

KW - Alzheimer Disease/genetics

KW - Exome

KW - Female

KW - Genetic Predisposition to Disease/genetics

KW - Genome-Wide Association Study/methods

KW - Genotype

KW - Humans

KW - Male

KW - Middle Aged

KW - Mutation

U2 - 10.1002/ajmg.b.32493

DO - 10.1002/ajmg.b.32493

M3 - SCORING: Journal article

C2 - 27573710

VL - 171

SP - 1116

EP - 1130

JO - AM J MED GENET B

JF - AM J MED GENET B

SN - 1552-4841

IS - 8

ER -