Evidence for three loci modifying age‐at‐onset of Alzheimer's disease in early‐onset PSEN2 families
Open accessAbstract
Families with early‐onset Alzheimer's disease (AD) sharing a single PSEN2 mutation exhibit a wide range of age‐at‐onset, suggesting that modifier loci segregate within these families. While APOE is known to be an age‐at‐onset modifier, it does not explain all of this variation. We performed a genome scan within nine such families for loci influencing age‐at‐onset, while simultaneously controlling for variation in the primary PSEN2 mutation (N141I) and APOE. We found significant evidence of linkage between age‐at‐onset and chromosome 1q23.3 (P < 0.001) when analysis included all families, and to chromosomes 1q23.3 (P < 0.001), 17p13.2 (P = 0.0002), 7q33 (P = 0.017), and 11p14.2 (P = 0.017) in a single large pedigree. Simultaneous analysis of these four chromosomes maintained strong evidence of linkage to chromosomes 1q23.3 and 17p13.2 when all families were analyzed, and to chromosomes 1q23.3, 7q33, and 17p13.2 within the same single pedigree. Inclusion of major gene covariates proved essential to detect these linkage signals, as all linkage signals dissipated when PSEN2 and APOE were excluded from the model. The four chromosomal regions with evidence of linkage all coincide with previous linkage signals, associated SNPs, and/or candidate genes identified in independent AD study populations. This study establishes several candidate regions for further analysis and is consistent with an oligogenic model of AD risk and age‐at‐onset. More generally, this study also demonstrates the value of searching for modifier loci in existing datasets previously used to identify primary causal variants for complex disease traits. © 2010 Wiley‐Liss, Inc.
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Age at onset of Alzheimer's disease is highly heritable in both familial and sporadic forms, with predicted genetic contributions up to 78% in sporadic late-onset AD and over 90% in monogenic early-onset familial AD.
“AAO of AD is highly heritable in both familial and sporadic forms of the disease, with predicted genetic contributions of up to 78% in the sporadic late-onset form,3, 4 and over 90% in a monogenic early-onset familial form.5”
From Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease (2015) · cites this paper as [5]
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Dermaut, B., Theuns, J., Sleegers, K., Hasegawa, H., den Broeck, M. V., Vennekens, K., Corsmit, E., George‐Hyslop, P. S., Cruts, M., van Duijn, C. M., et al. (2002) · The American Journal of Human Genetics · doi:10.1086/340732 · Cited by 48 · see citing works
A genome‐wide linkage analysis of dementia in the Amish
Hahs, D. W., McCauley, J. L., Crunk, A. E., McFarland, L. L., Gaskell, P. C., Jiang, L., Slifer, S. H., Vance, J. M., Scott, W. K., Welsh-Bohmer, K. A., et al. (2006) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30257 · Cited by 47 · see citing works
Cook, L. J., Ho, L. W., Taylor, A., Brayne, C., Evans, J. G., Xuereb, J. H., Cairns, N. J., Pritchard, A. L., Lemmon, H. A., Mann, D. M. A., et al. (2004) · Neuroscience Letters · doi:10.1016/j.neulet.2004.01.016 · Cited by 44 · see citing works
Genetic analysis with hierarchical models
Witte, J. S. (1997) · Genetic Epidemiology · doi:10.1002/(sici)1098-2272(1997)14:6 · Cited by 33 · see citing works
Evidence of linkage of HDL level variation to APOC3 in two samples with different ascertainment
Gagnon, F., Jarvik, G. P., Motulsky, A. G., Deeb, S. S., Brunzell, J. D., & Wijsman, E. M. (2003) · Human Genetics · doi:10.1007/s00439-003-1006-5 · Cited by 31 · see citing works
Self-citationGenome scan of venous thrombosis in a pedigree with protein C deficiency
Hasstedt, S. J., Scott, B., CALLAS, P. W., VOSSEN, C. Y., Rosendaal, F. R., Long, G. L., & Bovill, E. G. (2004) · Journal of Thrombosis and Haemostasis · doi:10.1111/j.1538-7836.2004.00663.x · Cited by 29 · see citing works
Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer’s disease
Lee, J. H., Barral, S., Cheng, R., Chacon, I. J., Santana, V., Williamson, J., Lantigua, R., Medrano, M., Velázquez, I. J., Stern, Y., et al. (2008) · Neurogenetics · doi:10.1007/s10048-007-0103-3 · Cited by 29 · see citing works
Joint Oligogenic Segregation and Linkage Analysis Using Bayesian Markov Chain Monte Carlo Methods
Wijsman, E. M., & Yu, D. (2004) · Molecular Biotechnology · doi:10.1385/mb:28:3:205 · Cited by 28 · see citing works
Self-citationExpanded high-resolution genetic study of 109 Swedish families with Alzheimer's disease
Sillén, A., Andrade, J., Lilius, L., Forsell, C., Axelman, K., Odeberg, J., Winblad, B. G., & Graff, C. (2007) · European Journal of Human Genetics · doi:10.1038/sj.ejhg.5201946 · Cited by 22 · see citing works
Rostagno, A., Lashley, T., Ng, D., Meyerson, J., Braendgaard, H., Plant, G., Bojsen-Møller, M., Holton, J., Frangione, B., Révész, T., et al. (2007) · Journal of Neurological Sciences · doi:10.1016/j.jns.2007.01.050 · Cited by 22 · see citing works
Characteristics of familial Alzheimer's disease in nine kindreds of Volga German ancestry.
Bird, T. D., Lampe, T. H., Nemens, E. J., Sumi, S. M., Nochlin, D., Schellenberg, G. D., & Wijsman, E. M. (1989) · PubMed · Cited by 19 · see citing works
Self-citationChlamydia pneumoniae infections augment atherosclerotic lesion formation: a role for serum amyloid P
Ezzahiri, R., Stassen, F. R. M., Kurvers, H. A. J. M., DOLMANS, V., Kitslaar, P. J. E. H. M., & Bruggeman, C. A. (2006) · Apmis · doi:10.1111/j.1600-0463.2006.apm_205.x · Cited by 18 · see citing works
Igo, R. P., & Wijsman, E. M. (2007) · Genetic Epidemiology · doi:10.1002/gepi.20267 · Cited by 17 · see citing works
Self-citationMa, J., Amos, C. I., & Daw, E. W. (2007) · Genetic Epidemiology · doi:10.1002/gepi.20231 · Cited by 17 · see citing works
Possible association of nicastrin polymorphisms and Alzheimer disease in the Finnish population
Helisalmi, S., Dermaut, B., Hiltunen, M. O., Mannermaa, A., den Broeck, M. V., Lehtovirta, M., Koivisto, A. M., Iivonen, S., Cruts, M., Soininen, H. S., et al. (2004) · Neurology · doi:10.1212/01.wnl.0000133153.98139.4e · Cited by 15 · see citing works
Dickson, M. R., Li, J., Wiener, H. W., Perry, R. T., Blacker, D., Bassett, S. S., & Go, R. C. P. (2008) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.30689 · Cited by 14 · see citing works
Identifying Modifier Loci in Existing Genome Scan Data
Daw, E. W., Lu, Y., Marian, A. J., & Shete, S. S. (2008) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2008.00449.x · Cited by 13 · see citing works
Genome Scans for Q1 and Q2 on General Population Replicates Using Loki
Shmulewitz, D., & Heath, S. C. (2001) · Genetic Epidemiology · doi:10.1002/gepi.2001.21.s1.s686 · Cited by 13 · see citing works
CHARACTERISTICS OF FAMILIAL ALZHEIMER??S DISEASE IN NINE KINDREDS OF VOLGA GERMAN ANCESTRY
Bird, T. D., Lampe, T. H., Nemens, E. J., Sumi, S. M., Nochlin, D., Schellenberg, G. D., Wijsman, E. M., & Miner, G. D. (1988) · Alzheimer Disease & Associated Disorders · doi:10.1097/00002093-198802030-00135 · Cited by 11 · see citing works
Self-citation
Flagged first, then by citations
2 of the 100 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
- Wijsman EM Amos CI Genetic analysis of simulated oligogenic traits in nuclear and extended pedigrees: Summary of GAW10 contributions Genet Epidemiol 1997 14 6 719 735 9433569
- Williams JT Duggirala R Blangero J Statistical properties of a variance components method for quantitative trait linkage analysis in nuclear families and extended pedigrees Genet Epidemiol 1997 14 6 1065 1070 9433625
Cited by
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The genetic landscape of Alzheimer disease: clinical implications and perspectives
Van Cauwenberghe, C., Van Broeckhoven, C., & Sleegers, K. (2016) · Genetics in Medicine · doi:10.1038/gim.2015.117 · Cited by 863 · see citing works
Cooper, D. N., Krawczak, M., Polychronakos, C., Tyler‐Smith, C., & Kehrer‐Sawatzki, H. (2013) · Human Genetics · doi:10.1007/s00439-013-1331-2 · Cited by 639 · see citing works
Molecular genetics of early-onset Alzheimer’s disease revisited
Cacace, R., Sleegers, K., & Van Broeckhoven, C. (2016) · Alzheimer's & Dementia · doi:10.1016/j.jalz.2016.01.012 · Cited by 617 · see citing works
Alzheimer’s disease phenotypes and genotypes associated with mutations in presenilin 2
Jayadev, S., Leverenz, J. B., Steinbart, E. J., Stahl, J. H., Klunk, W. E., Yu, C.-E., & Bird, T. D. (2010) · Brain · doi:10.1093/brain/awq033 · Cited by 246 · see citing works
Self-citationWijsman, E. M., Pankratz, N., Choi, Y., Rothstein, J. H., Faber, K. M., Cheng, R., Lee, J. H., Bird, T. D., Bennett, D. A., Diaz-Arrastia, R. R., et al. (2011) · PLoS Genetics · doi:10.1371/journal.pgen.1001308 · Cited by 223 · see citing works
Self-citationOrtiz‐Virumbrales, M., Moreno, C. L., Kruglikov, I., Marazuela, P., Sproul, A. A., Jacob, S., Zimmer, M., Paull, D. J., Zhang, B., Schadt, E. E., et al. (2017) · Acta Neuropathologica Communications · doi:10.1186/s40478-017-0475-z · Cited by 176 · see citing works
Lalli, M. A., Bettcher, B. M., Arcila, M. L., Garcia, G., Guzman, C., Madrigal, L., Ramirez, L., Acosta-Uribe, J., Baena, A., Wojta, K. J., et al. (2015) · Molecular Psychiatry · doi:10.1038/mp.2015.131 · Cited by 73 · see citing works
Lee, J. H., Cheng, R., Vardarajan, B., Lantigua, R., Reyes-Dumeyer, D., Ortmann, W., Graham, R. R., Bhangale, T., Behrens, T. W., Medrano, M., et al. (2015) · JAMA Neurology · doi:10.1001/jamaneurol.2015.1424 · Cited by 55 · see citing works
Modifier variant of METTL13 suppresses human GAB1–associated profound deafness
Yousaf, R., Ahmed, Z. M., Giese, A. P. J., Morell, R. J., Lagziel, A., Dabdoub, A., Wilcox, E. R., Riazuddin, S. A., Friedman, T. B., & Riazuddin, S. (2018) · Journal of Clinical Investigation · doi:10.1172/jci97350 · Cited by 44 · see citing works
Modifiers of GRN -Associated Frontotemporal Lobar Degeneration
Wauters, E., Mossevelde, S. V., van der Zee, J., Cruts, M., & Broeckhoven, C. V. (2017) · Trends in Molecular Medicine · doi:10.1016/j.molmed.2017.08.004 · Cited by 32 · see citing works
Exploratory data from complete genomes of familial alzheimer disease age-at-onset outliers
Lalli, M. A., Garcia, G., Madrigal, L., Arcos-Burgos, M., Arcila, M. L., Kosik, K. S., & Lopera, F. (2012) · Human Mutation · doi:10.1002/humu.22167 · Cited by 19 · see citing works
Pavard, S., & Coste, C. F. D. (2021) · Nature Ecology & Evolution · doi:10.1038/s41559-020-01355-2 · Cited by 20 · see citing works
Rubenstein, K., Matsushita, M., Berninger, V. W., Raskind, W. H., & Wijsman, E. M. (2011) · Behavior Genetics · doi:10.1007/s10519-010-9390-9 · Cited by 18 · see citing works
Self-citationSong, F., Han, G., Bai, Z., Peng, X., Wang, J., & Lei, H. (2015) · International review of neurobiology · doi:10.1016/bs.irn.2015.05.001 · Cited by 16 · see citing works
Genetic Complexity of Early-Onset Alzheimer’s Disease
Ghani, M., Reitz, C., George‐Hyslop, P. S., & Rogaeva, E. A. (2018) · Springer eBooks · doi:10.1007/978-3-319-72938-1_3 · Cited by 14 · see citing works
Variants regulating ZBTB4 are associated with age‐at‐onset of Alzheimer's disease
Blue, E., Yu, C., Thornton, T. A., Chapman, N. H., Kernfeld, E. M., Jiang, N., Shively, K. M., Buckingham, K. J., Marvin, C. T., Bamshad, M. J., et al. (2017) · Genes Brain & Behavior · doi:10.1111/gbb.12429 · Cited by 13 · see citing works
Self-citationEassa, N. E., Perez, S. M., Boley, A. M., Elam, H. B., Sharmin, D., Cook, J. M., & Lodge, D. J. (2023) · International Journal of Molecular Sciences · doi:10.3390/ijms241411788 · Cited by 9 · see citing works
Autosomal Dominant Alzheimer’s Disease: Underlying Causes
Ghani, M., & Rogaeva, E. A. (2014) · Springer eBooks · doi:10.1007/978-1-4471-6380-0_3 · Cited by 8 · see citing works
Blue, E., & Wijsman, E. M. (2011) · Human Heredity · doi:10.1159/000334083 · Cited by 7 · see citing works
Self-citationChoi, Y., Blue, E., Bird, T. D., Steinbart, E. J., Blacker, D., & Wijsman, E. M. (2011) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.31220 · Cited by 7 · see citing works
Self-citationMolecular genetics of early-onset Alzheimer's disease and frontotemporal lobar degeneration
Krüger, J. (2010) · Cited by 7 · see citing works
The Role of Genetics in Alzheimer's Disease and Parkinson's Disease
Porter, T., Gozt, A., Mastaglia, F. L., & Laws, S. M. (2019) · Wiley eBooks · doi:10.1002/9781119356752.ch15 · Cited by 7 · see citing works
Zhao, W., Blue, E., Cheung, C. Y. K., Steinbart, E. J., Schellenberg, G. D., Bird, T. D., & Wijsman, E. M. (2013) · American Journal of Medical Genetics Part B Neuropsychiatric Genetics · doi:10.1002/ajmg.b.32133 · Cited by 5 · see citing works
Self-citationPatel, M., Feng, W., McKay, N. S., Millar, P. R., Liu, M., Yang, C., Cetin, A., Johnson, M., Budde, J., Western, D., et al. (2026) · The Lancet Neurology · doi:10.1016/s1474-4422(26)00123-7 · Cited by 1 · see citing works
Downer, B. G. (2014) · UKnowledge (University of Kentucky)
Tsui, N. B. Y., & Lau, J. Y. N. (2021) · Springer eBooks · doi:10.1007/978-3-030-22009-9_939
Tsui, N. B. Y., & Lau, J. Y. N. (2019) · Springer eBooks · doi:10.1007/978-3-319-69892-2_939-1
Hereditary spastic paraplegia type 56: what a mouse can tell - a narrative review
Parodi, L., & Pujol, C. (2022) · Journal of Bio-X Research · doi:10.1097/jbr.0000000000000127
- Authors
- Marchani, E. E., Bird, T. D., Steinbart, E. J., Rosenthal, E., Yu, C., Schellenberg, G. D., & Wijsman, E. M.
- Affiliations
- University of Washington (US)
- University of Pennsylvania (US)
- Corresponding author
- Wijsman, Ellen M.
- Venue
- American Journal of Medical Genetics Part B: Neuropsychiatric Genetics
- Publisher
- Wiley
- Published
- 2010-06-24
- Volume
- 153B
- Issue
- 5
- Pages
- 1031-1041
- ISSN
- 1552-4841 (ISSN-L)
- 1552-485X
- PMC
- PMC3022037
- OpenAlex
- W2102697598
- Cited by
- 29
- References
- 100
- Citations by year
- 2026: 1 · 2023: 1 · 2022: 1 · 2021: 2 · 2019: 3 · 2018: 2 · 2017: 3 · 2016: 1 · 2015: 4 · 2014: 2 · 2013: 2 · 2012: 1
- FWCI
- 1.95
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- American Journal of Medical Genetics Part B Neuropsychiatric Genetics (publishedVersion)
- PubMed (publishedVersion)
- PubMed Central (acceptedVersion)
- Funders
- U.S. Department of Veterans Affairs
- National Institutes of Health (1z01ag000258-03, Z01 AG000258)
- National Institute on Aging (AG 05136, T32AG000258, P50AG005136)
- National Institute of General Medical Sciences (R01GM046255, GM46255, R37GM046255)
- Topics
- Health Sciences › Medicine › Physiology › Alzheimer's disease research and treatments
- Health Sciences › Medicine › Psychiatry and Mental health › Dementia and Cognitive Impairment Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic Associations and Epidemiology
- Keywords
- Alzheimer's disease, early-onset Alzheimer's disease, presenilin 2, age of onset, modifier loci, genetic linkage, apolipoprotein E, oligogenic inheritance, familial Alzheimer's disease, candidate genes
- MeSH terms
- Adult, Aged, Aged, 80 and over, Alzheimer Disease, Chromosomes, Human, Family, Genetic Markers, Germany, Humans, Genetic Linkage, Middle Aged, Genome, Human, Age of Onset, Chromosome Segregation, Quantitative Trait Loci, White People, Presenilin-2, Genetic Loci
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
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