CADRE members lead and participate in US and international research consortia. Below are listings of peer-reviewed publications that include CADRE members as lead or collaborating investigators.     

Featured publications


Rajabli et al. Linkage of Alzheimer disease families with Puerto Rican ancestry identifies a chromosome 9 locus. Neurobiol Aging 2021

The genetic admixture of Caribbean Hispanics provides an opportunity to discover novel genetic factors in Alzheimer disease (AD). This study sought to identify genetic variants for AD through a family-based design using the Puerto Rican (PR) Alzheimer Disease Initiative (PRADI). Whole-genome sequencing (WGS) and parametric linkage analysis were performed for 100 individuals from 23 multiplex PRADI families. Variants were prioritized by minor allele frequency ( < 0.01), functional potential [combined annotation dependent depletion score (CADD) > 10], and co-segregation with AD. Variants were further ranked using an independent PR case-control WGS dataset (PR10/66). A genome-wide significant linkage peak was found in 9p21 with a heterogeneity logarithm of the odds score (HLOD) > 5.1, which overlaps with an AD linkage region from two published independent studies. The region harbors C9orf72 , but no expanded repeats were observed in the families. Seven variants prioritized by the PRADI families also displayed evidence for association in the PR10/66 ( p < 0.05), including a missense variant in UNC13B. This study demonstrated the importance of family-based design and WGS in genetic study of AD.

Kunkle et al. Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis  JAMA Neurol 2020

While African Americans are approximately twice as likely to develop Alzheimer’s disease than non-Hispanic whites (NHW), the largest Alzheimer’s disease GWAS to date have been conducted in NHW individuals. Though still small by GWAS standards, our current analysis of just over 8,000 individuals with African ancestry (2,784 AD cases; 5,222 controls) was able to identify 11 novel AD risk loci including one novel genome-wide significant locus near the gene IGF1R (P=1.7×10-9; MAF = 0.01), and 10 novel loci associated at P <= 5 x 10-7 (5 common variant loci and 6 rare variant loci). Interestingly, 8 of the 11 novel associated variants are not present in European ancestral populations according to the gnomAD allele frequency database.

Recent publications

Listed by year and first author

2021 CADRE Investigators’ other AD Publications:

Andrews et al. Causal Associations Between Modifiable Risk Factors and the Alzheimer’s Phenome. Ann Neurol 2021

Avila et al. Education differentially contributes to cognitive reserve across racial/ethnic groups Alzheimers Dement 2021

Ayodele et al. Early-Onset Alzheimer’s Disease: What Is Missing in Research? Curr Neurol Neurosci Rep 2021

Brickman et al. Plasma p-tau181, p-tau217, and other blood-based Alzheimer’s disease biomarkers in a multi-ethnic, community study.  Alzheimers Dement 2021

Damotte et al. Plasma amyloid b levels are driven by genetic variants near APOE, BACE1, APP, PSEN2: A genome-wide association study in over 12,000 non-demented participants. Alzheimers Dement 2021

DeMichele-Sweet et al. Genome-wide association identifies the first risk loci for psychosis in Alzheimer disease. Mol Psychiatry 2021  

Deters et al. Amyloid PET Imaging in Self-Identified Non-Hispanic Black Participants of the Anti-Amyloid in Asymptomatic Alzheimer’s Disease (A4) Study. Neurology 2021

Guo et al. Association of Life’s Simple 7 with incident dementia and its modification by the apolipoprotein E genotype. Alzheimers Dement 2021

Hong et al. In vitro amplification of pathogenic tau conserves disease-specific bioactive characteristics. Acta Neuropathol 2021

Laverde-Paz et al. Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer’s disease risk variant p.S1038C in the TCC3 gene. Stem Cell Res 2021

Lagomarsino et al.  Stem cell-derived neurons reflect features of protein networks, neuropathology, and cognitive outcome of their aged human donors. Neuron 2021

Panitch et al. Integrative brain transcriptome analysis links complement component 4 and HSPA2 to the APOE e2 protective effect in Alzheimer disease.  Mol Psychiatry 2021

Pillai et al. TNFRSF1B Gene Variants and Related Soluble TNFR2 Levels Impact Resilience in Alzheimer’s Disease.  Front Aging Neurosci 2021

Ramos et al. Lower Levels of Education Are Associated with Cognitive Impairment in the Old Order Amish. J Alzheimers Dis 2021

Sharifian et al. Social network characteristics moderate associations between cortical thickness and cognitive functioning in older adults.  Alzheimers Dement 2021

Zhang et al. Sex-specific DNA methylation differences in Alzheimer’s disease pathology.  Acta neruopathol Commun 2021



Ajnakina et al. Interplay Between Socioeconomic Markers and Polygenic Predisposition on Timing of Dementia DiagnosisJ Am Geriatr Soc 2020

Andrews et al.  Association Between Alcohol Consumption and Alzheimer’s Disease: A Mendelian Randomization Study.  Alzheimers Dement 2020

Bussies et al.  Use of Local Genetic Ancestry to Assess TOMM40-523′ and Risk for Alzhiemer DiseaseNeurol Genet 2020

Fan et al.  Sex-dependent Autosomal Effects on Clinical Progression of Alzheimer’s Disease. Brain 2020

Griswold et al.  Immune and Inflammatory Pathways Implicated by Whole Blood Transcriptomic Analysis in a Diverse Ancestry Alzheimer’s Disease Cohort.  J Alzheimers Dis 2020

He et al.  Transmission of tauopathy strains is independent of their isoform composition.  Nat Commun.  2020

Kunkle et al.  Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis.   JAMA Neurol 2020

Lancour et al.  Analysis of brain region-specific co-expression networks reveals clustering of established and novel genes associated with Alzheimer disease.  Alzheimers Res Ther 2020

Pathak et al. Two-stage Bayesian GWAS of 9576 Individuals Identifies SNP Regions that are Targeted by miRNAs Inversely Expressed in Alzheimer’s and Cancer.   Alzheimers Dement 2020

Raghavan et al.  Association Between Common Variants in RBFOX1, an RNA-Binding Protein, and Brain Amyloidosis in Early and Preclinical Alzheimer Disease.   JAMA Neurol 2020

Reiman et al.  Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study.   Nat Commun. 2020

Strickland et al. MAPT Haplotype-stratified GWAS Reveals Differential Association for AD Risk Variants.   Alzheimers Dement 2020

Van Der Meer et al.  Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.  JAMA Psychiatry 2020

Vance et al.  Failure to Detect Synergy Between Variants in Transferrin and Hemochromatosis and Alzheimer’s Disease in Large Cohort.  Neurobiol Aging 2020

Vardarajan et al.  Differences in Plasma Metabolites Related to Alzheimer’s Disease, APOE e4 Status, and Ethnicity.   Alzheimers Dement 2020

Vergouw et al.  LRP10 variants in progressive supranuclear palsy. Neurobiol Aging 2020

Wang et al.  Circulating Vitamin D Levels and Alzheimer’s Disease: A Mendelian Randomization Study in the IGAP and UK Biobank.  J Alzheimers Dis 2020

Weitzman et al.  Insoluble Tau From Human FTDP-17 Cases Exhibit Unique Transmission Properties in Vivo J Neuropathol Exp Neurol 2020

Wheeler et al.  Hadoop and PySpark for reproducibility and scalability of genomic sequencing studies.  Pac Symp Biocomput. 2020




Amlie-Wolf, et al. Inferring the Molecular Mechanisms of Noncoding Alzheimer’s Disease-Associated Genetic Variants.  J Alzheimers Dis. 2019

Avila et al. Sex/gender differences in cognitive trajectories vary as a function of race/ethnicity. Alzheimers Dement. 2019

Baker et al. Gene-based analysis in HRC imputed genome wide association data indentifies three novel genes for Alzheimer’s disease. PLoS  One 2019 

Choi et al. APOE Promoter Polymorphism-219T/G is an Effect Modifier of the Influence of APOE e4 on Alzheimer’s Disease Risk in a Multiracial Sample. J Clin Med. 2019

Devanand et al.  Intact global cognitive and olfactory ability predicts lack of transition to dementia. Alzheimers Dement. 2019

Dumitrescu et al. Sex differences in the genetic predictors of Alzheimer’s pathology. Brain. 2019

Feliciano-Astacio et al. The Puerto Rico Alzheimer Disease Initiative (PRADI): A Multisource Ascertainment Approach. Front Genet. 2019

Gardner et al. RNA editing alterations in a multi-ethnic Alzheimer disease cohort converge on immune and endocytic molecular pathways. Hum Mol Genet. 2019

Goldschmidt-Clermont et al. Time for Well-Powered Controlled Prospective Studies to Test a Causal Role for Herpes Viruses in Alzheimer’s Disease Using Antiherpetic Drugs. J Gerontol A  Biol Sci Med Sci. 2019

Gutierrez et al. Brain arterial dilatation and the risk of Alzheimer’s disease. Alzheimers Dement. 2019

Kunkle et al. Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Ab, tau, immunity and lipid processing. Nat Genet. 2019

Leung et al. VCPA: genomic variant calling pipeline and data management tool for Alzheimer’s Disease Sequencing Project. Bioinformatics. 2019

Ma et al. Analysis of Whole-Exome Sequencing Data for Alzheimer Disease Stratified by APOE Genotype. JAMA Neurol. 2019

Ma et al. CpG-related SNPs in the MS4A region have a dose-dependent effect on risk of late-onset Alzheimer disease. Aging Cell. 2019

Naj et al. Quality Control and Integration of Genotypes from Two Calling Pipelines for Whole Genome Sequence Data in the Alzheimer’s Disease Sequencing Project. Genomics. 2019

Ogino et al. Current and past leisure time physical activity in relation to risk of Alzheimer’s disease in older adults. Alzheimers Dement. 2019

Patel et al. Association of Rare Coding Mutations With Alzheimer Disease and Other Dementias Among Adults of European Ancestry. JAMA Netw Open. 2019

Sariya et al. Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools. Front Genet. 2019

Stamm et al. Parental History of Dementia Is Associated with Increased Small Vessel Cerebrovascular Disease. J Gerontol A Biol Sci Med Sci. 2019

Tosto et al. Association of Variants in PINX1 and TREM2 With Late-Onset Alzheimer Disease. JAMA Neurol. 2019

Vonk et al. Education Moderates the Relation Between APOE e4 and Memory in Nondemented Non-Hispanic Black Older Adults. J Alzheimers Dis. 2019

Vonk et al. Secular trends in cognitive trajectories of diverse older adults. Alzheimers Dement. 2019

Zhang et al. A rare missense variant of CASP7 is associated with familial late-onset Alzheimer’s disease. Alzheimers Dement. 2019

Zhang et al. Genetic and epigenetic study of an Alzheimer’s disease family with monozygotic triplets. Brain. 2019


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