Variants in the ATP-Binding Cassette Transporter (ABCA7), Apolipoprotein E ϵ4, and the Risk of Late-Onset Alzheimer Disease in African Americans
Open accessAbstract
IMPORTANCE: Genetic variants associated with susceptibility to late-onset Alzheimer disease are known for individuals of European ancestry, but whether the same or different variants account for the genetic risk of Alzheimer disease in African American individuals is unknown. Identification of disease-associated variants helps identify targets for genetic testing, prevention, and treatment. OBJECTIVE: To identify genetic loci associated with late-onset Alzheimer disease in African Americans. DESIGN, SETTING, AND PARTICIPANTS: The Alzheimer Disease Genetics Consortium (ADGC) assembled multiple data sets representing a total of 5896 African Americans (1968 case participants, 3928 control participants) 60 years or older that were collected between 1989 and 2011 at multiple sites. The association of Alzheimer disease with genotyped and imputed single-nucleotide polymorphisms (SNPs) was assessed in case-control and in family-based data sets. Results from individual data sets were combined to perform an inverse variance-weighted meta-analysis, first with genome-wide analyses and subsequently with gene-based tests for previously reported loci. MAIN OUTCOMES AND MEASURES: Presence of Alzheimer disease according to standardized criteria. RESULTS: Genome-wide significance in fully adjusted models (sex, age, APOE genotype, population stratification) was observed for a SNP in ABCA7 (rs115550680, allele = G; frequency, 0.09 cases and 0.06 controls; odds ratio [OR], 1.79 [95% CI, 1.47-2.12]; P = 2.2 × 10(-9)), which is in linkage disequilibrium with SNPs previously associated with Alzheimer disease in Europeans (0.8 < D' < 0.9). The effect size for the SNP in ABCA7 was comparable with that of the APOE ϵ4-determining SNP rs429358 (allele = C; frequency, 0.30 cases and 0.18 controls; OR, 2.31 [95% CI, 2.19-2.42]; P = 5.5 × 10(-47)). Several loci previously associated with Alzheimer disease but not reaching significance in genome-wide analyses were replicated in gene-based analyses accounting for linkage disequilibrium between markers and correcting for number of tests performed per gene (CR1, BIN1, EPHA1, CD33; 0.0005 < empirical P < .001). CONCLUSIONS AND RELEVANCE: In this meta-analysis of data from African American participants, Alzheimer disease was significantly associated with variants in ABCA7 and with other genes that have been associated with Alzheimer disease in individuals of European ancestry. Replication and functional validation of this finding is needed before this information is used in clinical settings.
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The ATP-binding cassette transporter (ABCA7) protein doubles the risk of Alzheimer's disease in Blacks with ABCA7 compared with Blacks without ABCA7.
“Researchers have also found another genetic factor, the ATP-binding cassette transporter (ABCA7) protein, that doubles the risk of Alzheimer's disease in Blacks with ABCA7 compared with Blacks without ABCA7.84”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [84]
The Abstract Results report that a specific ABCA7 variant, rs115550680, was associated with higher odds of late-onset Alzheimer disease in African Americans (OR 1.79), roughly the claimed twofold increase. The claim incorrectly frames the comparison as people with versus without the ABCA7 protein; the paper compares carriers of a variant, and reports odds rather than a doubling of risk. (LLM, conf=0.87)
Experimental — accuracy not yet measuredThe influence of the APOE-e4 allele on Alzheimer's risk may be stronger for White Americans than Black Americans.
“the influence of the APOE-e4 allele on Alzheimer's risk may be stronger for White Americans than Black Americans”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [84]
The introduction says reported Alzheimer’s risk associated with APOE ε4 heterozygosity is inconsistent in African Americans compared with whites. The Results report an association in African Americans, but the paper does not establish the claim’s direction—that the effect may be stronger in White Americans. (LLM, conf=0.77)
Experimental — accuracy not yet measuredThe ATP-binding cassette transporter (ABCA7) protein doubles the risk of Alzheimer's dementia in Black people with ABCA7 compared with Black people without ABCA7.
“Researchers have also found that another genetic factor, the ATP‐binding cassette transporter (ABCA7) protein, doubles the risk of Alzheimer's dementia in Black people with ABCA7 compared with Black people without ABCA7.”
From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [90]
The Abstract Results report that an ABCA7 variant, rs115550680, was associated with higher odds of late-onset Alzheimer disease in African Americans (OR 1.79, 95% CI 1.47–2.12). That is approximately a doubling of odds, but the comparison concerns a specific genetic variant—not Black people “with ABCA7” versus those “without ABCA7”—and the study does not establish that the protein itself causes the increase. (LLM, conf=0.90)
Experimental — accuracy not yet measuredThe influence of the APOE-e4 allele on Alzheimer's risk may be stronger for White Americans than Black Americans.
“While there is some research into how the influence of genetic risk factors on Alzheimer's and other dementias may differ by race — for example, the influence of the APOE‐e4 allele on Alzheimer's risk may be stronger for White Americans than Black Americans”
From 2024 Alzheimer's disease facts and figures (2024) · cites this paper as [90]
The introduction to the study says reported Alzheimer’s risk associated with APOE ε4 heterozygosity is inconsistent in African Americans compared with whites. The Results report an APOE ε4 association in African Americans, but the paper does not establish the claim’s direction—that its influence is stronger in White Americans. (LLM, conf=0.82)
Experimental — accuracy not yet measuredSome studies found that having the APOE-e4 allele did not increase Alzheimer's risk among Blacks, while other studies found that it significantly increased risk.
“For example, some have found that having the e4 allele did not increase risk among Blacks, [80][81][82] while other studies have found that it significantly increased risk.[83][84][85][86]”
From 2023 Alzheimer's disease facts and figures (2023) · cites this paper as [84]
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Cites
Measuring inconsistency in meta-analyses
Higgins, J. P. T., Thompson, S. G., Deeks, J. J., & Altman, D. G. (2003) · BMJ · doi:10.1136/bmj.327.7414.557 · Cited by 63,139 · see citing works
Quantifying heterogeneity in a meta‐analysis
Higgins, J. P. T., & Thompson, S. G. (2002) · Statistics in Medicine · doi:10.1002/sim.1186 · Cited by 36,763 · see citing works
McKhann, G., Drachman, D., Folstein, M., Katzman, R., Price, D., & Stadlan, E. M. (1984) · Neurology · doi:10.1212/wnl.34.7.939 · Cited by 27,915 · see citing works
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248 · see citing works
Heart Disease and Stroke Statistics—2012 Update: A Report From the American Heart Association
Writing Group Members, Roger, V. L., Go, A. S., Lloyd-Jones, D. M., Benjamin, E. J., Berry, J. D., Borden, W. B., Bravata, D. M., Dai, S., Ford, E. S., et al. (2012) · Circulation · doi:10.1161/cir.0b013e31823ac046 · Cited by 7,333 · see citing works
Harold, D., Abraham, R., Hollingworth, P., Sims, R., Gerrish, A., Hamshere, M. L., Pahwa, J. S., Moskvina, V., Dowzell, K., Williams, A., et al. (2009) · Nature Genetics · doi:10.1038/ng.440 · Cited by 3,326 · see citing works
Self-citationRestriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI.
Hixson, J., & Vernier, D. (1990) · Journal of Lipid Research · doi:10.1016/s0022-2275(20)43176-1 · Cited by 2,933 · see citing works
Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
the European Alzheimer's Disease Initiative Investigators, Lambert, J.-C., Heath, S., Even, G., Campion, D., Sleegers, K., Hiltunen, M., Combarros, O., Zelenika, D., Bullido, M. J., et al. (2009) · Nature Genetics · doi:10.1038/ng.439 · Cited by 2,234 · see citing works
Initiative, T. A. D. N., Hollingworth, P., CHARGE consortium, EADI1 consortium, Harold, D., Sims, R., Gerrish, A., Lambert, J.-C., Carrasquillo, M. M., Abraham, R., et al. (2011) · Nature Genetics · doi:10.1038/ng.803 · Cited by 1,997 · see citing works
Self-citationNaj, A. C., Jun, G., Beecham, G. W., Wang, L.-S., Vardarajan, B. N., Buros, J., Gallins, P. J., Buxbaum, J. D., Jarvik, G. P., Crane, P. K., et al. (2011) · Nature Genetics · doi:10.1038/ng.801 · Cited by 1,901 · see citing works
Self-citationFast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737 · see citing works
Genome-wide Analysis of Genetic Loci Associated With Alzheimer Disease
Seshadri, S. (2010) · JAMA · doi:10.1001/jama.2010.574 · Cited by 1,219 · see citing works
The neuronal sortilin-related receptor SORL1 is genetically associated with Alzheimer disease
Rogaeva, E., Meng, Y., Lee, J. H., Gu, Y., Kawarai, T., Zou, F., Katayama, T., Baldwin, C. T., Cheng, R., Hasegawa, H., et al. (2007) · Nature Genetics · doi:10.1038/ng1943 · Cited by 1,167 · see citing works
Self-citationNatural history of mild cognitive impairment in older persons
Bennett, D. A., Wilson, R. S., Schneider, J. A., Evans, D. A., Beckett, L. A., Aggarwal, N. T., Barnes, L. L., Fox, J. H., & Bach, J. (2002) · Neurology · doi:10.1212/wnl.59.2.198 · Cited by 1,037 · see citing works
Self-citationMorris, J. C., Weintraub, S., Chui, H. C., Cummings, J., DeCarli, C., Ferris, S., Foster, N. L., Galasko, D., Graff-Radford, N., Peskind, E. R., et al. (2006) · Alzheimer Disease & Associated Disorders · doi:10.1097/01.wad.0000213865.09806.92 · Cited by 950 · see citing works
Self-citationThe LightCycler TM : A Microvolume Multisample Fluorimeter with Rapid Temperature Control
Wittwer, C. T., Ririe, K. M., Andrew, R., David, D., Gundry, R. A., & Balis, U. J. (1997) · BioTechniques · doi:10.2144/97221pf02 · Cited by 901 · see citing works
<i>APOE</i> predicts amyloid‐beta but not tau Alzheimer pathology in cognitively normal aging
Morris, J. C., Roe, C. M., Xiong, C., Fagan, A. M., Goate, A. M., Holtzman, D. M., & Mintun, M. A. (2010) · Annals of Neurology · doi:10.1002/ana.21843 · Cited by 830 · see citing works
Self-citationDementia and Alzheimer Disease Incidence: A Prospective Cohort Study
Kukull, W. A., Higdon, R., Bowen, J. D., McCormick, W. C., Teri, L., Schellenberg, G. D., van Belle, G., Jolley, L., & Larson, E. B. (2002) · Archives of Neurology · doi:10.1001/archneur.59.11.1737 · Cited by 806 · see citing works
Self-citationA Versatile Gene-Based Test for Genome-wide Association Studies
Liu, J. Z., McRae, A. F., Nyholt, D. R., Medland, S. E., Wray, N. R., Brown, K. M., Hayward, N. K., Montgomery, G. W., Visscher, P. M., Martin, N. G., et al. (2010) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2010.06.009 · Cited by 791 · see citing works
Tang, M.-X. (1998) · JAMA · doi:10.1001/jama.279.10.751 · Cited by 771 · see citing works
Incidence of AD in African-Americans, Caribbean Hispanics, and Caucasians in northern Manhattan
Tang, M. ‐., Cross, P. S., Andrews, H., Jacobs, D. M., Small, S. A., Bell, K., Merchant, C., Lantigua, R., Costa, R., Stern, Y., et al. (2001) · Neurology · doi:10.1212/wnl.56.1.49 · Cited by 721 · see citing works
Self-citationVascular risk factors for Alzheimer’s disease:
Breteler, M. M. B. (2000) · Neurobiology of Aging · doi:10.1016/s0197-4580(99)00110-4 · Cited by 664 · see citing works
Berg, L., McKeel, D. W., Miller, J. P., Storandt, M., Rubin, E. H., Morris, J. C., Baty, J., Coats, M., Norton, J., Goate, A. M., et al. (1998) · Archives of Neurology · doi:10.1001/archneur.55.3.326 · Cited by 657 · see citing works
Self-citationMild cognitive impairment is related to Alzheimer disease pathology and cerebral infarctions
Bennett, D. A., Schneider, J. A., Bienias, J. L., Evans, D. A., & Wilson, R. S. (2005) · Neurology · doi:10.1212/01.wnl.0000152982.47274.9e · Cited by 537 · see citing works
Self-citationEdwards, T. L., Scott, W. K., Almonte, C., Burt, A., Powell, E., Beecham, G., Wang, L.-Y., Züchner, S., Konidari, I., Wang, G., et al. (2010) · Annals of Human Genetics · doi:10.1111/j.1469-1809.2009.00560.x · Cited by 512 · see citing works
Self-citationWorldwide Prevalence and Incidence of Dementia
Fratiglioni, L., Ronchi, D. D., & Torres, H. A. (1999) · Drugs & Aging · doi:10.2165/00002512-199915050-00004 · Cited by 490 · see citing works
Single-Nucleotide Polymorphism Analysis by Pyrosequencing
Ahmadian, A., Gharizadeh, B., Gustafsson, A. C., Sterky, F. H., Nyrén, P., Uhlén, M., & Lundeberg, J. (2000) · Analytical Biochemistry · doi:10.1006/abio.2000.4493 · Cited by 433 · see citing works
Jun, G. (2010) · Archives of Neurology · doi:10.1001/archneurol.2010.201 · Cited by 422 · see citing works
Self-citationHeritability for Alzheimer’s disease: the study of dementia in Swedish twins
Gatz, M., Pedersen, N. L., Berg, S., Johansson, B., Johansson, K., Mortimer, J. A., Posner, S. F., Viitanen, M., Winblad, B., & Ahlbom, A. (1997) · The Journals of Gerontology Series A: Biological Sciences and Medical Sciences · doi:10.1093/gerona/52a.2.m117 · Cited by 413 · see citing works
The Rush Memory and Aging Project: Study Design and Baseline Characteristics of the Study Cohort
Bennett, D. A., Schneider, J. A., Buchman, A. S., de Leon, C. F. M., Bienias, J. L., & Wilson, R. S. (2005) · Neuroepidemiology · doi:10.1159/000087446 · Cited by 405 · see citing works
Self-citationSlooter, A. J. C., Cruts, M., Kalmijn, S., Hofman, A., Breteler, M. M. B., Van Broeckhoven, C., & van Duijn, C. M. (1998) · Archives of Neurology · doi:10.1001/archneur.55.7.964 · Cited by 399 · cited 2× · see citing works
“As much as 20% of the disease-attributable risk is related to the ε4 variant in APOE.(2) A series of large genome-wide association studies (GWASs) identified several additional variants that affect disease susceptibility in non-Hispanic whites of European ancestry, including CR1, CLU, PICALM, BIN1, CD2AP, CD33, EPHA1,…”
Risk of Dementia Among White and African American Relatives of Patients With Alzheimer Disease
Green, R. C. (2002) · JAMA · doi:10.1001/jama.287.3.329 · Cited by 391 · see citing works
Self-citationEvans, D. A., Bennett, D. A., Wilson, R. S., Bienias, J. L., Morris, M. C., Scherr, P. A., Hebert, L. E., Aggarwal, N., Beckett, L. A., Joglekar, R., et al. (2003) · Archives of Neurology · doi:10.1001/archneur.60.2.185 · Cited by 370 · see citing works
Self-citationBarnes, L. L., Shah, R. C., Aggarwal, N. T., Bennett, D. A., & Schneider, J. A. (2012) · Current Alzheimer Research · doi:10.2174/156720512801322627 · Cited by 301 · see citing works
Self-citationGenetic variation in PCDH11X is associated with susceptibility to late-onset Alzheimer’s disease
Carrasquillo, M. M., Zou, F., Pankratz, V. S., Wilcox, S. L., Ma, L., Walker, L. P., Younkin, S. G., Younkin, C. S., Younkin, L. H., Bisceglio, G. D., et al. (2009) · Nature Genetics · doi:10.1038/ng.305 · Cited by 296 · see citing works
Self-citationHaroutunian, V. (1998) · Archives of Neurology · doi:10.1001/archneur.55.9.1185 · Cited by 289 · see citing works
Longitudinal course and neuropathologic outcomes in original vs revised MCI and in pre-MCI
Storandt, M., Grant, E., Miller, J. P., & Morris, J. C. (2006) · Neurology · doi:10.1212/01.wnl.0000228231.26111.6e · Cited by 285 · see citing works
Complete genomic screen in Parkinson disease: evidence for multiple genes.
Scott, W. K., NANCE, M. A., Watts, R. L., Hubble, J. P., Koller, W. C., Lyons, K. E., Pahwa, R., Stern, M. B., Colcher, A., Hiner, B. C., et al. (2001) · PubMed · doi:10.1001/jama.286.18.2239 · Cited by 281 · see citing works
Self-citationGenome-wide Association Study Implicates a Chromosome 12 Risk Locus for Late-Onset Alzheimer Disease
Beecham, G. W., Martin, E. R., Li, Y.-J., Slifer, M. A., Gilbert, J. R., Haines, J. L., & Pericak-Vance, M. A. (2009) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2008.12.008 · Cited by 260 · see citing works
Self-citationDesign of the Chicago Health and Aging Project (CHAP)
Bienias, J. L., Beckett, L. A., Bennett, D. A., Wilson, R. S., & Evans, D. A. (2003) · Journal of Alzheimer s Disease · doi:10.3233/jad-2003-5501 · Cited by 250 · see citing works
Self-citationA Comprehensive Genetic Association Study of Alzheimer Disease in African Americans
Logue, M. W. (2011) · Archives of Neurology · doi:10.1001/archneurol.2011.646 · Cited by 250 · see citing works
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Reitz, C. (2011) · Archives of Neurology · doi:10.1001/archneurol.2010.346 · Cited by 162 · see citing works
Self-citationA 4-Mb High-Density Single Nucleotide Polymorphism-Based Map around Human APOE
Lai, E., Riley, J., Purvis, I. J., & Roses, A. D. (1998) · Genomics · doi:10.1006/geno.1998.5581 · Cited by 161 · see citing works
ATP‐binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro
Chan, S. L., Kim, W. S., Kwok, J. B., Hill, A. F., Cappai, R., Rye, K., & Garner, B. (2008) · Journal of Neurochemistry · doi:10.1111/j.1471-4159.2008.05433.x · Cited by 133 · see citing works
Analyses of the National Institute on Aging Late-Onset Alzheimer's Disease Family Study
Lee, J. H., Cheng, R., Graff-Radford, N., Foroud, T., & Mayeux, R. (2008) · Archives of Neurology · doi:10.1001/archneur.65.11.1518 · Cited by 132 · see citing works
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Murrell, J. R., Price, B., Lane, K. A., Baiyewu, O., Gureje, O., Ogunniyi, A., Unverzagt, F. W., Smith-Gamble, V., Gao, S., Hendrie, H. C., et al. (2006) · Archives of Neurology · doi:10.1001/archneur.63.3.431 · Cited by 108 · see citing works
Self-citationAssociation of CLU and PICALM variants with Alzheimer's disease
Kamboh, M. I., Minster, R. L., Demirci, F. Y., Ganguli, M., DeKosky, S. T., López, O. L., & Barmada, M. M. (2010) · Neurobiology of Aging · doi:10.1016/j.neurobiolaging.2010.04.015 · Cited by 75 · see citing works
Self-citationRoles of ATP-Binding Cassette Transporter A7 in Cholesterol Homeostasis and Host Defense System
Tanaka, N., Abe-Dohmae, S., Iwamoto, N., & Yokoyama, S. (2011) · Journal of Atherosclerosis and Thrombosis · doi:10.5551/jat.6726 · Cited by 73 · see citing works
White Matter Predictors of Cognitive Functioning in Older Adults
Meier, I. B., Manly, J. J., Provenzano, F. A., Louie, K. S., Wasserman, B. T., Griffith, E. Y., Hector, J. T., Allocco, E. R., & Brickman, A. M. (2012) · Journal of the International Neuropsychological Society · doi:10.1017/s1355617712000227 · Cited by 58 · see citing works
Self-citationAssessment of Genotype Imputation Performance Using 1000 Genomes in African American Studies
Hancock, D. B., Levy, J. L., Gaddis, N., Bierut, L. J., Saccone, N. L., Page, G. P., & Johnson, E. O. (2012) · PLoS ONE · doi:10.1371/journal.pone.0050610 · Cited by 45 · see citing works
Comprehensive evaluation of imputation performance in African Americans
Chanda, P., Yuhki, N., Li, M., Bader, J. S., Hartz, A., Boerwinkle, E., Kao, W. L., & Arking, D. E. (2012) · Journal of Human Genetics · doi:10.1038/jhg.2012.43 · Cited by 17 · see citing works
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Jin, S. C., Carrasquillo, M. M., Benitez, B. A., Skorupa, T., Carrell, D., Patel, D., Lincoln, S., Krishnan, S., Kachadoorian, M., Reitz, C., et al. (2015) · Molecular Neurodegeneration · doi:10.1186/s13024-015-0016-9 · Cited by 153 · see citing works
Self-citationVardarajan, B. N., Ghani, M., Kahn, A., Sheikh, S., Sato, C., Barral, S., Lee, J. H., Cheng, R., Reitz, C., Lantigua, R., et al. (2015) · Annals of Neurology · doi:10.1002/ana.24466 · Cited by 148 · see citing works
Self-citationRaj, T., Ryan, K. J., Replogle, J. M., Chibnik, L. B., Rosenkrantz, L., Tang, A., Rothamel, K., Stranger, B. E., Bennett, D. A., Evans, D. A., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt666 · Cited by 144 · see citing works
Ewers, M., Biechele, G., Suárez‐Calvet, M., Sacher, C., Blume, T., Morenas‐Rodriguez, E., Deming, Y., Piccio, L., Cruchaga, C., Kleinberger, G., et al. (2020) · EMBO Molecular Medicine · doi:10.15252/emmm.202012308 · Cited by 133 · see citing works
ATP-binding cassette transporter A7 (ABCA7) loss of function alters Alzheimer amyloid processing
Satoh, K., Abe-Dohmae, S., Yokoyama, S., St George-Hyslop, P., & Fraser, P. E. (2015) · Journal of Biological Chemistry · doi:10.1074/jbc.m115.655076 · Cited by 128 · see citing works
APOE ε4 and the risk for Alzheimer disease and cognitive decline in African Americans and Yoruba
Hendrie, H. C., Murrell, J., Baiyewu, O., Lane, K. A., Purnell, C., Ogunniyi, A., Unverzagt, F. W., Hall, K., Callahan, C. M., Saykin, A. J., et al. (2014) · International Psychogeriatrics · doi:10.1017/s1041610214000167 · Cited by 123 · see citing works
Self-citationStructure and function of ABCA4 and its role in the visual cycle and Stargardt macular degeneration
Molday, R. S., Garces, F. A., Scortecci, J. F., & Molday, L. L. (2022) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2021.101036 · Cited by 107 · see citing works
<i>ABCA7</i> frameshift deletion associated with Alzheimer disease in African Americans
Cukier, H. N., Kunkle, B. W., Vardarajan, B. N., Rolati, S., Hamilton-Nelson, K. L., Kohli, M. A., Whitehead, P. L., Dombroski, B. A., Van Booven, D., Lang, R., et al. (2016) · Neurology Genetics · doi:10.1212/nxg.0000000000000079 · Cited by 100 · see citing works
Deleterious ABCA7 mutations and transcript rescue mechanisms in early onset Alzheimer’s disease
On behalf of the European Early-Onset Dementia (EU EOD) consortium, De Roeck, A., Van den Bossche, T., van der Zee, J., Verheijen, J., De Coster, W., Van Dongen, J., Dillen, L., Baradaran-Heravi, Y., Heeman, B., et al. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1714-x · Cited by 74 · see citing works
Choi, K., Lee, J., Gunasekaran, T., Kang, S., Lee, W., Jeong, J., Lim, H., Zhang, X., Zhu, C., Won, S.-Y., et al. (2019) · Journal of Clinical Medicine · doi:10.3390/jcm8081236 · Cited by 72 · see citing works
Self-citationJun, G., Asai, H., Zeldich, E., Drapeau, E., Chen, C., Chung, J., Park, J., Kim, S., Haroutunian, V., Foroud, T., et al. (2014) · Annals of Neurology · doi:10.1002/ana.24219 · Cited by 67 · see citing works
Self-citationPathophysiological relevance of deiodinase polymorphism
Bianco, A. C., & Kim, B. S. (2018) · Current Opinion in Endocrinology, Diabetes & Obesity · doi:10.1097/med.0000000000000428 · Cited by 59 · see citing works
Chandra, S., Di Meco, A., Dodiya, H. B., Popovic, J., Cuddy, L. K., Weigle, I. Q., Zhang, X., Sadleir, K., Sisodia, S. S., & Vassar, R. (2023) · Molecular Neurodegeneration · doi:10.1186/s13024-023-00635-2 · Cited by 58 · 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
Self-citationHaddick, P. C. G., Alzheimer’s Disease Genetic Consortium (ADGC), A. D. N. I. (., Larson, J. L., Rathore, N., Bhangale, T. R., Phung, Q. T., Srinivasan, K., Hansen, D. V., Lill, J. R., Pericak-Vance, M. A., et al. (2017) · Journal of Alzheimer's Disease · doi:10.3233/jad-160524 · Cited by 55 · see citing works
Self-citationSex differences in the genetic architecture of Alzheimer’s disease
Dumitrescu, L., Mayeda, E. R., Sharman, K., Moore, A. M., & Hohman, T. J. (2019) · Current Genetic Medicine Reports · doi:10.1007/s40142-019-0157-1 · Cited by 48 · see citing works
Genetic risk factors for Alzheimer disease: emerging roles of microglia in disease pathomechanisms
Takatori, S., Wang, W., Iguchi, A., & Tomita, T. (2019) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-05542-4_5 · Cited by 44 · see citing works
Reddy, J. S., Heath, L., Linden, A. V., Allen, M., Lopes, K. D. P., Seifar, F., Wang, E., Ma, Y., Poehlman, W. L., Quicksall, Z. S., et al. (2024) · Alzheimer's & Dementia · doi:10.1002/alz.14208 · Cited by 29 · see citing works
Self-citationNovikova, G., Kapoor, M., TCW, J., Abud, E. M., Efthymiou, A. G., Cheng, H., Fullard, J. F., Bendl, J., Roussos, P., Poon, W. W., et al. (2019) · doi:10.1101/694281 · Cited by 27 · see citing works
Self-citationGenes, pathways and risk prediction in Alzheimer’s disease
Hardy, J., & Escott-Price, V. (2019) · Human Molecular Genetics · doi:10.1093/hmg/ddz163 · Cited by 27 · see citing works
Validation of a priori candidate Alzheimer’s disease SNPs with brain amyloid-beta deposition
Vacher, M., Porter, T., Villemagne, V. L., Milicic, L., Peretti, M., Fowler, C., Martins, R., Rainey-Smith, S., Ames, D., Masters, C. L., et al. (2019) · Scientific Reports · doi:10.1038/s41598-019-53604-5 · Cited by 26 · see citing works
Genetic associations with age at dementia onset in the <i>PSEN1 E280A</i> Colombian kindred
Cochran, J. N., Acosta‐Uribe, J., Esposito, B. T., Madrigal, L., Aguillón, D., Giraldo, M. M., Taylor, J. W., Bradley, J., Fulton‐Howard, B., Andrews, S. J., et al. (2023) · Alzheimer's & Dementia · doi:10.1002/alz.13021 · Cited by 21 · see citing works
Self-citationRare <i>ABCA7</i> variants in 2 German families with Alzheimer disease
May, P., Pichler, S., Hartl, D., Bobbili, D. R., Mayhaus, M., Spaniol, C., Kurz, A., Balling, R., Schneider, J. G., & Riemenschneider, M. (2018) · Neurology Genetics · doi:10.1212/nxg.0000000000000224 · Cited by 18 · see citing works
Kunkle, B. W., Carney, R. M., Kohli, M. A., Naj, A. C., Hamilton-Nelson, K. L., Whitehead, P. L., Wang, L., Lang, R., Cuccaro, M. L., Vance, J. M., et al. (2017) · Neuroscience Letters · doi:10.1016/j.neulet.2017.04.014 · Cited by 19 · see citing works
Self-citationHuggins, L. K. L., Min, S. H., Kaplan, S., Wei, J., Welsh-Bohmer, K., & Xu, H. (2023) · Journal of Alzheimer's Disease · doi:10.3233/jad-221167 · Cited by 18 · see citing works
- Authors
- Reitz, C., Jun, G., Naj, A., Rajbhandary, R., Vardarajan, B. N., Wang, L.-S., Valladares, O., Lin, C.-F., Larson, E. B., Graff-Radford, N. R., Evans, D., De Jager, P. L., Crane, P. K., Buxbaum, J. D., Murrell, J. R., Raj, T., Ertekin-Taner, N., Logue, M., Baldwin, C. T., Green, R. C., Barnes, L. L., Cantwell, L. B., Fallin, M. D., Go, R. C. P., Griffith, P., Obisesan, T. O., Manly, J. J., Lunetta, K. L., Kamboh, M. I., Lopez, O. L., Bennett, D. A., Hendrie, H., Hall, K. S., Goate, A. M., Byrd, G. S., Kukull, W. A., Foroud, T. M., Haines, J. L., Farrer, L. A., Pericak-Vance, M. A., Schellenberg, G. D., Mayeux, R., & Alzheimer Disease Genetics Consortium, F. T.
- Affiliations
- Columbia University (US)
- Boston University (US)
- University of Miami (US)
- Group Health Cooperative (US)
- Rush University (US)
- University of Washington (US)
- Indiana University – Purdue University Indianapolis (US)
- Harvard University (US)
- Johns Hopkins University (US)
- University of Alabama at Birmingham (US)
- Meharry Medical College (US)
- Howard University (US)
- University of Pittsburgh (US)
- Regenstrief Institute (US)
- Indiana University Bloomington (US)
- Washington University in St. Louis (US)
- North Carolina Agricultural and Technical State University (US)
- Vanderbilt University (US)
- ORCID
- Reitz, Christiane
- Jun, Gyungah
- Naj, Adam
- Vardarajan, Badri Narayan
- Valladares, Otto
- Lin, Chiao-Feng
- Larson, Eric B.
- Evans, Denis
- Crane, Paul K.
- Buxbaum, Joseph D.
- Murrell, Jill R.
- Raj, Towfique
- Logue, Mark
- Green, Robert C.
- Barnes, Lisa L.
- Fallin, M. Daniele
- Griffith, Patrick
- Obisesan, Thomas O.
- Manly, Jennifer J.
- Lunetta, Kathryn L.
- Kamboh, M. Ilyas
- Bennett, David A.
- Hendrie, Hugh
- Goate, Alison M.
- Byrd, Goldie S.
- Kukull, Walter A.
- Foroud, Tatiana M.
- Haines, Jonathan L.
- Farrer, Lindsay A.
- Schellenberg, Gerard D.
- Mayeux, Richard
- Venue
- JAMA
- Publisher
- American Medical Association (AMA)
- Published
- 2013-04-10
- Volume
- 309
- Issue
- 14
- Pages
- 1483
- ISSN
- 0002-9955 (ISSN-L)
- 0098-7484
- PMC
- PMC3667653
- OpenAlex
- W2003958717
- Cited by
- 431
- References
- 52
- Citations by year
- 2026: 13 · 2025: 24 · 2024: 38 · 2023: 32 · 2022: 29 · 2021: 33 · 2020: 34 · 2019: 40 · 2018: 26 · 2017: 35 · 2016: 36 · 2015: 35 · 2014: 38 · 2013: 18
- FWCI
- 29.48
- Type
- journal article
- Language
- en
- Open access
- green
- www.ncbi.nlm.nih.gov
- Locations
- JAMA (publishedVersion)
- PubMed (publishedVersion)
- Europe PMC (PubMed Central) (acceptedVersion)
- PubMed Central (acceptedVersion)
- IUScholarWorks (Indiana University) (submittedVersion)
- Funders
- Alzheimer's Association
- Amgen
- Pfizer
- Eisai
- H. Lundbeck A/S
- National Institutes of Health (5r01ag027944-05, 7r01ag019757-06, 5r37ag015473-15)
- Genentech
- National Institute on Aging (R01AG28786-01A1, AG 005138, RC2AG036650, R01AG017917, P01AG010491, P50 AG016575, P30-AG 10161, AG05 128, P30AG010129, P30AG010133, R01AG019085, P30 AG 08051, R01AG028786, U01‐AG10483, R01AG33193, P50 AG016576, R01AG030146, AG021547, P50‐AG16574, R01 AG30146, AG010491, P50AG019724, R01AG037212, R01‐AG17917, U24 AG026390, P30AG028383, R01 AG15819, P01AG007232, P30AG012300, AG 025688, P50AG016577, U01-AG-06781, P50AG005133, R01-AG027944, P30AG028377, U01AG006781, U01AG016976, P50AG005131, R01-AG019757, R01AG22018, K23AG034550, R37-AG015473, P50AG005138, R01AG026390, P50AG016570, R01AG011101, R01AG040770, P50AG005128, P30AG010124, P50AG016573, AG019757, R01AG021547, R01AG030653, U01AG010483, R01AG015819, P30AG008017, P30AG010161, U01AG032984, R01AG015473, P 50 AG05681, R01AG031581, P30AG008051, R01AG041797, P50AG016582, P50AG008702, AG032984, 5R01AG20688, P50AG005681, P50AG005142, R01AG036040, R01AG032990, P50AG008671, P30AG019610, R01AG026916, P50AG005146, P01 AG0 3991, P01AG003991, U24AG026395, P30AG013846, P50AG005136, P50AG005134, P30AG013854, U19AG010483, R01AG025259, P50AG025688, R01AG009029, R01AG1101, R01AG017173, RC2AG036528, R01AG033193, P01AG002219, P30 AG-10133, U24AG056270, P01AG019724, R01AG022018, P01AG026276, U24AG021886, P30AG062421, P50AG023501, AG027944, R01AG020688, AG 030653, P30-AG13846), P50AG016574, R01AG009956)
- National Institute of Mental Health (MH60451, R01MH080295, P50MH060451)
- National Human Genome Research Institute (U01HG004610, U01HG006375)
- National Cancer Institute (R01CA129769, U54CA137788, U54CA132378)
- National Institute of Neurological Disorders and Stroke (NS3 9764, R01NS036768, P50NS039764)
- National Center for Research Resources (MO1 RR000-96, UL1RR02777, KL2RR024151, UL1RR029893, M01RR000096)
- National Institute on Minority Health and Health Disparities (P20MD000546)
- 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
- late-onset Alzheimer's disease, African Americans, ABCA7, APOE ε4, genetic susceptibility, single nucleotide polymorphisms, linkage disequilibrium, rs429358, complement receptor 1, BIN1, EphA1, genetic association, gene-based association tests
- MeSH terms
- Aged, Alzheimer Disease, Black or African American, Genotype, Humans, Middle Aged, Risk, Genetic Variation, Linkage Disequilibrium, Case-Control Studies, Age of Onset, ATP-Binding Cassette Transporters, Genetic Predisposition to Disease, Polymorphism, Single Nucleotide, Apolipoprotein E4, Genome-Wide Association Study
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.
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