Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have...

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Published in	PloS one Vol. 7; no. 2; p. e31039
Main Authors	Cruchaga, Carlos, Chakraverty, Sumitra, Mayo, Kevin, Vallania, Francesco L. M., Mitra, Robi D., Faber, Kelley, Williamson, Jennifer, Bird, Tom, Diaz-Arrastia, Ramon, Foroud, Tatiana M., Boeve, Bradley F., Graff-Radford, Neill R., St. Jean, Pamela, Lawson, Michael, Ehm, Margaret G., Mayeux, Richard, Goate, Alison M.
Format	Journal Article
Language	English
Published	United States Public Library of Science 01.02.2012 Public Library of Science (PLoS)
Subjects	Adult Advertising executives Age Aged Aged, 80 and over Aging Alzheimer Disease - genetics Alzheimer's disease Alzheimers disease Amyloid beta-Protein Precursor - genetics Biology Brain research Dementia Dementia disorders Deoxyribonucleic acid Disease control DNA Family Female Genes Genetic aspects Genetic counseling Genetic Predisposition to Disease - genetics Genetics Genomes Genomics Health risks Heritability Humans Intercellular Signaling Peptides and Proteins - genetics Male Medicine Middle Aged Mutation Neurodegeneration Neurodegenerative diseases Neurology Nominations Pedigree Presenilin-1 - genetics Presenilin-2 - genetics Progranulins Proteins Psychiatry Risk Studies Surgeons Task forces tau Proteins - genetics North Carolina New York United States > US Missouri Indianapolis Indiana
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Abstract	Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28) or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.
AbstractList	Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28) or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28) or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09x10.sup.-5 ; OR = 2.21; 95%CI = 1.49-3.28) or an unselected population of 12,481 samples (p = 6.82x10.sup.-5 ; OR = 2.19; 95%CI = 1.347-3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. Pathogenic mutations in APP , PSEN1 , PSEN2 , MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT , two in PSEN1 and four in GRN ) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09×10 −5 ; OR = 2.21; 95%CI = 1.49–3.28) or an unselected population of 12,481 samples (p = 6.82×10 −5 ; OR = 2.19; 95%CI = 1.347–3.26). Rare coding variants in APP , PSEN1 and PSEN2 , increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09 × 10⁻⁵; OR = 2.21; 95%CI = 1.49-3.28) or an unselected population of 12,481 samples (p = 6.82 × 10⁻⁵; OR = 2.19; 95%CI = 1.347-3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT, two in PSEN1 and four in GRN) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09×10−5; OR = 2.21; 95%CI = 1.49–3.28) or an unselected population of 12,481 samples (p = 6.82×10−5; OR = 2.19; 95%CI = 1.347–3.26). Rare coding variants in APP, PSEN1 and PSEN2, increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS. Pathogenic mutations in APP , PSEN1 , PSEN2 , MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these genes has been performed in either very small series or in single families with late onset AD (LOAD). Similarly, studies in single families have reported mutations in MAPT and GRN associated with clinical AD but no systematic screen of a large dataset has been performed to determine how frequently this occurs. We report sequence data for 439 probands from late-onset AD families with a history of four or more affected individuals. Sixty sequenced individuals (13.7%) carried a novel or pathogenic mutation. Eight pathogenic variants, (one each in APP and MAPT , two in PSEN1 and four in GRN ) three of which are novel, were found in 14 samples. Thirteen additional variants, present in 23 families, did not segregate with disease, but the frequency of these variants is higher in AD cases than controls, indicating that these variants may also modify risk for disease. The frequency of rare variants in these genes in this series is significantly higher than in the 1,000 genome project (p = 5.09×10 −5 ; OR = 2.21; 95%CI = 1.49–3.28) or an unselected population of 12,481 samples (p = 6.82×10 −5 ; OR = 2.19; 95%CI = 1.347–3.26). Rare coding variants in APP , PSEN1 and PSEN2 , increase risk for or cause late onset AD. The presence of variants in these genes in LOAD and early-onset AD demonstrates that factors other than the mutation can impact the age at onset and penetrance of at least some variants associated with AD. MAPT and GRN mutations can be found in clinical series of AD most likely due to misdiagnosis. This study clearly demonstrates that rare variants in these genes could explain an important proportion of genetic heritability of AD, which is not detected by GWAS.
Audience	Academic
Author	Bird, Tom Goate, Alison M. Diaz-Arrastia, Ramon St. Jean, Pamela Faber, Kelley Mitra, Robi D. Graff-Radford, Neill R. Chakraverty, Sumitra Lawson, Michael Cruchaga, Carlos Vallania, Francesco L. M. Foroud, Tatiana M. Boeve, Bradley F. Mayo, Kevin Ehm, Margaret G. Mayeux, Richard Williamson, Jennifer
AuthorAffiliation	2 Department of Genetics, Washington University, St. Louis, Missouri, United States of America Oslo University Hospital, Norway 4 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, New York, United States of America 5 VA Medical Center and Departments of Neurology and Medicine, University of Washington, Seattle, Washington, United States of America 8 Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America 3 Department of Medical and Molecular Genetics, Indiana University, Indianapolis, United States of America 7 Department of Neurology, Mayo Clinic, Rochester, Minnesota, United States of America 1 Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America 6 Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America 9 Genet
AuthorAffiliation_xml	– name: 9 Genetics, GlaxoSmithKline, Research Triangle Park, North Carolina, United States of America – name: 3 Department of Medical and Molecular Genetics, Indiana University, Indianapolis, United States of America – name: 5 VA Medical Center and Departments of Neurology and Medicine, University of Washington, Seattle, Washington, United States of America – name: 7 Department of Neurology, Mayo Clinic, Rochester, Minnesota, United States of America – name: 8 Department of Neurology, Mayo Clinic, Jacksonville, Florida, United States of America – name: Oslo University Hospital, Norway – name: 1 Department of Psychiatry and Hope Center Program on Protein Aggregation and Neurodegeneration, Washington University, St. Louis, Missouri, United States of America – name: 6 Department of Neurology, University of Texas Southwestern Medical Center, Dallas, Texas, United States of America – name: 2 Department of Genetics, Washington University, St. Louis, Missouri, United States of America – name: 4 Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, New York, United States of America
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BackLink	https://www.ncbi.nlm.nih.gov/pubmed/22312439$$D View this record in MEDLINE/PubMed
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Copyright	COPYRIGHT 2012 Public Library of Science 2012 Cruchaga et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License: https://creativecommons.org/licenses/by/4.0/ (the “License”), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License. Cruchaga et al. 2012
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Notes	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 content type line 23 Conceived and designed the experiments: CC R. Mayeux AG. Performed the experiments: CC SC KM. Analyzed the data: CC SC KM FV Robi Mitra. Contributed reagents/materials/analysis tools: KF JW TB RD TF BB NG PST ML ME R. Mayeux. Wrote the paper: CC AG. For a list of the members of the NIA-LOAD/NCRAD Family Study Consortium please see the Acknowledgments section.
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PLoS One. 2012;7(5): doi/10.1371/annotation/c92e16da-7733-421d-b063-1db19488daa6
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Snippet	Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these... Pathogenic mutations in APP , PSEN1 , PSEN2 , MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these... Pathogenic mutations in APP , PSEN1 , PSEN2 , MAPT and GRN have previously been linked to familial early onset forms of dementia. Mutation screening in these...
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SubjectTerms	Adult Advertising executives Age Aged Aged, 80 and over Aging Alzheimer Disease - genetics Alzheimer's disease Alzheimers disease Amyloid beta-Protein Precursor - genetics Biology Brain research Dementia Dementia disorders Deoxyribonucleic acid Disease control DNA Family Female Genes Genetic aspects Genetic counseling Genetic Predisposition to Disease - genetics Genetics Genomes Genomics Health risks Heritability Humans Intercellular Signaling Peptides and Proteins - genetics Male Medicine Middle Aged Mutation Neurodegeneration Neurodegenerative diseases Neurology Nominations Pedigree Presenilin-1 - genetics Presenilin-2 - genetics Progranulins Proteins Psychiatry Risk Studies Surgeons Task forces tau Proteins - genetics
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Title	Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families
URI	https://www.ncbi.nlm.nih.gov/pubmed/22312439 https://www.proquest.com/docview/1323455129 https://www.proquest.com/docview/927833545 https://pubmed.ncbi.nlm.nih.gov/PMC3270040 https://doaj.org/article/00e347ba0885474d87ad4841483412db http://dx.doi.org/10.1371/journal.pone.0031039
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