Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study

Josue D. Gonzalez Murcia; Cameron Schmutz; Caitlin Munger; Ammon Perkes; Aaron Gustin; Michael Peterson; Mark T.W. Ebbert; Maria C. Norton; Jo Ann T. Tschanz; Ronald G. Munger; Christopher D. Corcoran; John S.K. Kauwe

doi:10.1016/j.neurobiolaging.2013.06.004

Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study

Josue D. Gonzalez Murcia
, Cameron Schmutz
, Caitlin Munger
, Ammon Perkes
, Aaron Gustin
, Michael Peterson
, Mark T.W. Ebbert
, Maria C. Norton
, Jo Ann T. Tschanz
, Ronald G. Munger
, Christopher D. Corcoran
, John S.K. Kauwe

Research output: Contribution to journal › Article › peer-review

47 Scopus citations

Abstract

Recent studies have identified the rs75932628 (R47H) variant in TREM2 as an Alzheimer's disease risk factor with estimated odds ratio ranging from 2.9 to 5.1. The Cache County Memory Study is a large, population-based sample designed for the study of memory and aging. We genotyped R47H in 2974 samples (427 cases and 2540 control subjects) from the Cache County study using a custom TaqMan assay. We observed 7 heterozygous cases and 12 heterozygous control subjects with an odds ratio of 3.5 (95% confidence interval, 1.3-8.8; p= 0.0076). The minor allele frequency and population attributable fraction for R47H were 0.0029 and 0.004, respectively. This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.

Original language	English
Pages (from-to)	2889.e11-2889.e13
Journal	Neurobiology of Aging
Volume	34
Issue number	12
DOIs	https://doi.org/10.1016/j.neurobiolaging.2013.06.004
State	Published - Dec 2013

Bibliographical note

Funding Information:
This work was supported by grants from NIH ( R01AG11380 , R01AG21136 , R01AG31272 , R01AG042611 ), the Alzheimer's Association ( MNIRG-11-205368 ), the Charleston Conference on Alzheimer's Disease and the Brigham Young University Gerontology Program . The authors thank the participants and staff of the Dementia Progression Study, the Utah Population Database, and the Cache County Study on Memory Health and Aging for their important contributions to this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Funding

This work was supported by grants from NIH ( R01AG11380 , R01AG21136 , R01AG31272 , R01AG042611 ), the Alzheimer's Association ( MNIRG-11-205368 ), the Charleston Conference on Alzheimer's Disease and the Brigham Young University Gerontology Program . The authors thank the participants and staff of the Dementia Progression Study, the Utah Population Database, and the Cache County Study on Memory Health and Aging for their important contributions to this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

Funders	Funder number
National Institutes of Health (NIH)	R01AG31272, R01AG042611, R01AG21136
National Institute on Aging	R01AG011380
Alzheimer's Association	MNIRG-11-205368
Brigham Young University–Hawaii

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

SDG 3 Good Health and Well-being

Keywords

Alzheimer's disease
Human
R47H
Rare variant
TREM2

ASJC Scopus subject areas

Clinical Neurology
Geriatrics and Gerontology
Aging
General Neuroscience
Developmental Biology

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10.1016/j.neurobiolaging.2013.06.004

Cite this

Gonzalez Murcia, J. D., Schmutz, C., Munger, C., Perkes, A., Gustin, A., Peterson, M., Ebbert, M. T. W., Norton, M. C., Tschanz, J. A. T., Munger, R. G., Corcoran, C. D., & Kauwe, J. S. K. (2013). Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study. Neurobiology of Aging, 34(12), 2889.e11-2889.e13. https://doi.org/10.1016/j.neurobiolaging.2013.06.004

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title = "Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study",

abstract = "Recent studies have identified the rs75932628 (R47H) variant in TREM2 as an Alzheimer's disease risk factor with estimated odds ratio ranging from 2.9 to 5.1. The Cache County Memory Study is a large, population-based sample designed for the study of memory and aging. We genotyped R47H in 2974 samples (427 cases and 2540 control subjects) from the Cache County study using a custom TaqMan assay. We observed 7 heterozygous cases and 12 heterozygous control subjects with an odds ratio of 3.5 (95\% confidence interval, 1.3-8.8; p= 0.0076). The minor allele frequency and population attributable fraction for R47H were 0.0029 and 0.004, respectively. This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.",

keywords = "Alzheimer's disease, Human, R47H, Rare variant, TREM2",

author = "\{Gonzalez Murcia\}, \{Josue D.\} and Cameron Schmutz and Caitlin Munger and Ammon Perkes and Aaron Gustin and Michael Peterson and Ebbert, \{Mark T.W.\} and Norton, \{Maria C.\} and Tschanz, \{Jo Ann T.\} and Munger, \{Ronald G.\} and Corcoran, \{Christopher D.\} and Kauwe, \{John S.K.\}",

note = "Funding Information: This work was supported by grants from NIH ( R01AG11380 , R01AG21136 , R01AG31272 , R01AG042611 ), the Alzheimer's Association ( MNIRG-11-205368 ), the Charleston Conference on Alzheimer's Disease and the Brigham Young University Gerontology Program . The authors thank the participants and staff of the Dementia Progression Study, the Utah Population Database, and the Cache County Study on Memory Health and Aging for their important contributions to this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.",

year = "2013",

month = dec,

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Gonzalez Murcia, JD, Schmutz, C, Munger, C, Perkes, A, Gustin, A, Peterson, M, Ebbert, MTW, Norton, MC, Tschanz, JAT, Munger, RG, Corcoran, CD & Kauwe, JSK 2013, 'Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study', Neurobiology of Aging, vol. 34, no. 12, pp. 2889.e11-2889.e13. https://doi.org/10.1016/j.neurobiolaging.2013.06.004

TY - JOUR

T1 - Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample

T2 - The Cache County Study

AU - Gonzalez Murcia, Josue D.

AU - Schmutz, Cameron

AU - Munger, Caitlin

AU - Perkes, Ammon

AU - Gustin, Aaron

AU - Peterson, Michael

AU - Ebbert, Mark T.W.

AU - Norton, Maria C.

AU - Tschanz, Jo Ann T.

AU - Munger, Ronald G.

AU - Corcoran, Christopher D.

AU - Kauwe, John S.K.

N1 - Funding Information: This work was supported by grants from NIH ( R01AG11380 , R01AG21136 , R01AG31272 , R01AG042611 ), the Alzheimer's Association ( MNIRG-11-205368 ), the Charleston Conference on Alzheimer's Disease and the Brigham Young University Gerontology Program . The authors thank the participants and staff of the Dementia Progression Study, the Utah Population Database, and the Cache County Study on Memory Health and Aging for their important contributions to this work. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.

PY - 2013/12

Y1 - 2013/12

N2 - Recent studies have identified the rs75932628 (R47H) variant in TREM2 as an Alzheimer's disease risk factor with estimated odds ratio ranging from 2.9 to 5.1. The Cache County Memory Study is a large, population-based sample designed for the study of memory and aging. We genotyped R47H in 2974 samples (427 cases and 2540 control subjects) from the Cache County study using a custom TaqMan assay. We observed 7 heterozygous cases and 12 heterozygous control subjects with an odds ratio of 3.5 (95% confidence interval, 1.3-8.8; p= 0.0076). The minor allele frequency and population attributable fraction for R47H were 0.0029 and 0.004, respectively. This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.

AB - Recent studies have identified the rs75932628 (R47H) variant in TREM2 as an Alzheimer's disease risk factor with estimated odds ratio ranging from 2.9 to 5.1. The Cache County Memory Study is a large, population-based sample designed for the study of memory and aging. We genotyped R47H in 2974 samples (427 cases and 2540 control subjects) from the Cache County study using a custom TaqMan assay. We observed 7 heterozygous cases and 12 heterozygous control subjects with an odds ratio of 3.5 (95% confidence interval, 1.3-8.8; p= 0.0076). The minor allele frequency and population attributable fraction for R47H were 0.0029 and 0.004, respectively. This study replicates the association between R47H and Alzheimer's disease risk in a large, population-based sample, and estimates the population frequency and attributable risk of this rare variant.

KW - Alzheimer's disease

KW - Human

KW - R47H

KW - Rare variant

KW - TREM2

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UR - https://www.scopus.com/pages/publications/84884165090#tab=citedBy

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DO - 10.1016/j.neurobiolaging.2013.06.004

M3 - Article

C2 - 23855982

AN - SCOPUS:84884165090

SN - 0197-4580

VL - 34

SP - 2889.e11-2889.e13

JO - Neurobiology of Aging

JF - Neurobiology of Aging

IS - 12

ER -

Assessment Of Trem2 Rs75932628 Association With Alzheimer's Disease In A Population-Based Sample: The Cache County Study

Abstract

Bibliographical note

Funding

UN SDGs

Keywords

ASJC Scopus subject areas

Access to Document

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