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

45 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.

Keywords

Alzheimer's disease
Human
R47H
Rare variant
TREM2

ASJC Scopus subject areas

Neuroscience (all)
Aging
Developmental Biology
Clinical Neurology
Geriatrics and Gerontology

UN SDGs

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

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10.1016/j.neurobiolaging.2013.06.004

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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",

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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

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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

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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.

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KW - Rare variant

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ER -

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

Abstract

Bibliographical note

Keywords

ASJC Scopus subject areas

UN SDGs

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