Resources: Bibliography

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Summary-Based Methylome-Wide Association Analyses Suggest Potential Genetically Driven Epigenetic Heterogeneity of Alzheimer's Disease

Alzheimer's disease (AD) is a progressive neurodegenerative disorder with no curative treatment available. Exploring the genetic and non-genetic contributors to AD pathogenesis is essential to better understand its underlying biological mechanisms, and to develop novel preventive and therapeutic strategies.

Nazarian, A., Yashin, A. I., Kulminski, A.M.

Journal of Clinical Medicine


Implications of the Use of Algorithmic Diagnoses or Medicare Claims to Ascertain Dementia

Formal dementia ascertainment with research criteria is resource-intensive, prompting the growing use of alternative approaches. Our objective was to illustrate the potential bias and implications for study conclusions introduced through the use of alternate dementia ascertainment approaches.

Power, M.C., Gianattasio, K.Z., Ciarleglio, A.



Racial Disparities and Temporal Trends in Dementia Misdiagnosis Risk in the United States

Systematic disparities in misdiagnosis of dementia across racial/ethnic groups have implications for health disparities. We compared the risk of dementia under- and overdiagnosis in clinical settings across racial/ethnic groups from 2000 to 2010.

Gianattasio, K.Z., Prather, C., Glymour, M.M., Ciarleglio, A., Power, M.C.

Alzheimer's & Dementia


Validation of a Claims-Based Frailty Index Against Physical Performance and Adverse Health Outcomes in the Health and Retirement Study

Background: A claims-based frailty index (CFI) was developed based on a deficit-accumulation approach using self-reported health information. This study aimed to independently validate the CFI against physical performance and adverse health outcomes.

Kim, D., Glynn, R., Avorn, J., Lipsitz, L., Rockwood, K., Pawar, A., and Schneeweiss, S.

Journals of Gerontology Series A: Biological Sciences and Medical Sciences


APOE Region Molecular Signatures of Alzheimer's Disease across Races/Ethnicities

The role of even the strongest genetic risk factor for Alzheimer's disease (AD), the apolipoprotein E (APOE) e4 allele, in its etiology remains poorly understood. We examined molecular signatures of AD defined as differences in linkage disequilibrium patterns between AD-affected and -unaffected whites (2673/16,246), Hispanics (392/867), and African Americans (285/1789), separately.

Kulminski, A.M., Shu, L., Loika, Y., Nazarian, A., Arbeev, K.G., Ukraintseva, S., Yashin, A. I., Culminskaya, I.

Neurobiology of Aging


Genetic Heterogeneity of Alzheimer's Disease in Subjects with and without Hypertension

Alzheimer's disease (AD) is a progressive neurodegenerative disorder caused by the interplay of multiple genetic and non-genetic factors. Hypertension is one of the AD risk factors that has been linked to underlying pathological changes like senile plaques and neurofibrillary tangles formation as well as hippocampal atrophy. In this study, we investigated the differences in the genetic architecture of AD between hypertensive and non-hypertensive subjects in four independent cohorts.

Nazarian, A., Arbeev, K.G., Yashkin, A.P., Kulminski, A.M.



Evaluation of the Genetic Variance of Alzheimer's Disease Explained by the Disease-Associated Chromosomal Regions

Heritability analysis of complex traits/diseases is commonly performed to obtain illustrative information about the potential contribution of the genetic factors to their phenotypic variances. In this study, we investigated the narrow-sense heritability (h2) of Alzheimer's disease (AD) using genome-wide single-nucleotide polymorphisms (SNPs) data from three independent studies in the linear mixed models framework.

Nazarian, A., Kulminski, A.M.

Journal of Alzheimer's Disease


Genome-Wide Analysis of Genetic Predisposition to Alzheimer's Disease and Related Sex Disparities

We investigated the genetic architecture of AD in four publicly available independent datasets through genome-wide association, transcriptome-wide association, and gene-based and pathway-based analyses. To explore differences in the genetic basis of AD between males and females, analyses were performed on three samples in each dataset: males and females combined, only males, or only females.

Nazarian, A., Yashin, A. I., Kulminski, A.M.

Alzheimer's Research & Therapy


Strong Impact of Natural-Selection-Free Heterogeneity in Genetics of Age-Related Phenotypes

A conceptual difficulty in genetics of age-related phenotypes that make individuals vulnerable to disease in post-reproductive life is genetic heterogeneity attributed to an undefined role of evolution in establishing their molecular mechanisms. Here, we performed univariate and pleiotropic genome-wide meta-analyses of 20 age-related phenotypes leveraging longitudinal information in a sample of 33,431 individuals and dealing with the natural-selection-free genetic heterogeneity.

Kulminski, A.M., Huang, J., Loika, Y., Arbeev, K.G., Bagley, O., Yashkin, A., Duan, M., Culminskaya, I.



Identifying Older Adults with Serious Illness: A Critical Step toward Improving the Value of Health Care.

Objective(s): To create and test three prospective, increasingly restrictive definitions of serious illness.

Kelley, A. S., Covinsky, K. E., Gorges, R. J., McKendrick, K., Bollens-Lund, E., Morrison, R. S., & Ritchie, C. S.

Health Services Research