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Genetic and lifestyle risk factors for MRI-defined brain infarcts in a population-based setting

Chauhan, Ganesh ; Adams, Hieab H.H. ; Satizabal, Claudia L. ; [et al.]

Ovid Technologies (Wolters Kluwer Health) ; 2019

In: Neurology Vol. 92, No. 5 ( 2019-01-29)

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In: Neurology, Ovid Technologies (Wolters Kluwer Health), Vol. 92, No. 5 ( 2019-01-29)

Type of Medium: Online Resource

ISSN: 0028-3878 , 1526-632X

URL: Article

DOI: 10.1212/WNL.0000000000006851

RVK:

XA 10000

Language: English

Publisher: Ovid Technologies (Wolters Kluwer Health)

Publication Date: 2019

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Attitudes and Beliefs About Brain Donation Among Black Americans

Caban‐Holt, Allison M ; Lloyd, Shawnta' ; Starks, Takiyah D. ; [et al.]

Wiley ; 2022

In: Alzheimer's & Dementia Vol. 18, No. S11 ( 2022-12)

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In: Alzheimer's & Dementia, Wiley, Vol. 18, No. S11 ( 2022-12)

Abstract: African Americans (AA) are underrepresented in Alzheimer’s disease (AD) brain donation research, making up approximately 2% of brain donations to the National Alzheimer’s Coordinating Center (NACC). The objective of this study is to gain insights into the attitudes of Black∖AA individuals toward brain donation and perceptions of medical research that may hinder or facilitate brain donation. Method A 35‐item survey was developed to understand the attitudes and beliefs about brain donation in a sample of AA, using survey items validated in prior investigations. Electronic and paper and pencil surveys were administered in Florida, New York and North Carolina, United States between November 2021‐January 2022. Descriptive analysis of demographic data and was conducted using SAS® software version 9.4. Result The racial composition of the 135 respondents was primarily Black/African American (97.58%), with the remaining responses for race as “missing” or “prefer not to answer”. Most respondents were women (73.6%). The majority of respondents report having a positive view about medical research (85.5%), while 72.1% believe that medical researchers can be trusted to protect the interests of participants. Many respondents reported wanting to learn more about AD (93.1%). Whereas, 82.0% report not knowing how researchers use a brain for research, 58.9% report knowing that study of the brain is important for advances in AD. Despite 53.1% of respondents reporting being either unlikely or unsure whether they would donate a loved one’s brain even if that was their loved ones’ wish, only 21.4% of the sample believe that the decision to donate one’s brain is mostly a family decision. Overall, 63.8% of the respondents are either unsure or unlikely to donate their own brain. Conclusion Findings suggest that 1) awareness of brain donation research procedures and processes should be focused on whole family education, and 2) increasing knowledge about AD will be fruitful areas for an educational intervention. Including families in the consenting processes will be pivotal in ensuring that brain donation occurs. Results will be utilized to develop a community‐informed educational program for Black communities about AD research and brain donation.

Type of Medium: Online Resource

ISSN: 1552-5260 , 1552-5279

URL: Issue

URL: Article

DOI: 10.1002/alz.v18.S11

DOI: 10.1002/alz.067846

Language: English

Publisher: Wiley

Publication Date: 2022

detail.hit.zdb_id: 2201940-6

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Properties of global‐ and local‐ancestry adjustments in genetic association tests in admixed populations

Martin, Eden R. ; Tunc, Ilker ; Liu, Zhi ; [et al.]

Wiley ; 2018

In: Genetic Epidemiology Vol. 42, No. 2 ( 2018-03), p. 214-229

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In: Genetic Epidemiology, Wiley, Vol. 42, No. 2 ( 2018-03), p. 214-229

Abstract: Population substructure can lead to confounding in tests for genetic association, and failure to adjust properly can result in spurious findings. Here we address this issue of confounding by considering the impact of global ancestry (average ancestry across the genome) and local ancestry (ancestry at a specific chromosomal location) on regression parameters and relative power in ancestry‐adjusted and ‐unadjusted models. We examine theoretical expectations under different scenarios for population substructure; applying different regression models, verifying and generalizing using simulations, and exploring the findings in real‐world admixed populations. We show that admixture does not lead to confounding when the trait locus is tested directly in a single admixed population. However, if there is more complex population structure or a marker locus in linkage disequilibrium (LD) with the trait locus is tested, both global and local ancestry can be confounders. Additionally, we show the genotype parameters of adjusted and unadjusted models all provide tests for LD between the marker and trait locus, but in different contexts. The local ancestry adjusted model tests for LD in the ancestral populations, while tests using the unadjusted and the global ancestry adjusted models depend on LD in the admixed population(s), which may be enriched due to different ancestral allele frequencies. Practically, this implies that global‐ancestry adjustment should be used for screening, but local‐ancestry adjustment may better inform fine mapping and provide better effect estimates at trait loci.

Type of Medium: Online Resource

ISSN: 0741-0395 , 1098-2272

URL: Issue

URL: Article

DOI: 10.1002/gepi.2018.42.issue-2

DOI: 10.1002/gepi.22103

Language: English

Publisher: Wiley

Publication Date: 2018

detail.hit.zdb_id: 1492643-X

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Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population

Beecham, Ashley H. ; Amezcua, Lilyana ; Chinea, Angel ; [et al.]

Public Library of Science (PLoS) ; 2022

In: PLOS ONE Vol. 17, No. 12 ( 2022-12-22), p. e0279132-

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In: PLOS ONE, Public Library of Science (PLoS), Vol. 17, No. 12 ( 2022-12-22), p. e0279132-

Abstract: The Major Histocompatibility Complex (MHC) makes the largest genetic contribution to multiple sclerosis (MS) susceptibility, with 32 independent effects across the region explaining 20% of the heritability in European populations. Variation is high across populations with allele frequency differences and population-specific risk alleles identified. We sought to identify MHC-specific MS susceptibility variants and assess the effect of ancestral risk modification within 2652 Latinx and Hispanic individuals as well as 2435 Black and African American individuals. We have identified several novel susceptibility alleles which are rare in European populations including HLA-B*53 : 01 , and we have utilized the differing linkage disequilibrium patterns inherent to these populations to identify an independent role for HLA-DRB1*15 : 01 and HLA-DQB1*06 : 02 on MS risk. We found a decrease in Native American ancestry in MS cases vs controls across the MHC, peaking near the previously identified MICB locus with a decrease of ~5.5% in Hispanics and ~0.4% in African Americans. We have identified several susceptibility variants, including within the MICB gene region, which show global ancestry risk modification and indicate ancestral differences which may be due in part to correlated environmental factors. We have also identified several susceptibility variants for which MS risk is modified by local ancestry and indicate true ancestral genetic differences; including HLA-DQB1*06 : 02 for which MS risk for European allele carriers is almost two times the risk for African allele carriers. These results validate the importance of investigating MS susceptibility at an ancestral level and offer insight into the epidemiology of MS phenotypic diversity.

Type of Medium: Online Resource

ISSN: 1932-6203

URL: Article

DOI: 10.1371/journal.pone.0279132

DOI: 10.1371/journal.pone.0279132.g001

DOI: 10.1371/journal.pone.0279132.g002

DOI: 10.1371/journal.pone.0279132.g003

DOI: 10.1371/journal.pone.0279132.g004

DOI: 10.1371/journal.pone.0279132.g005

DOI: 10.1371/journal.pone.0279132.t001

DOI: 10.1371/journal.pone.0279132.t002

DOI: 10.1371/journal.pone.0279132.t003

DOI: 10.1371/journal.pone.0279132.t004

DOI: 10.1371/journal.pone.0279132.t005

DOI: 10.1371/journal.pone.0279132.s001

DOI: 10.1371/journal.pone.0279132.s002

DOI: 10.1371/journal.pone.0279132.s003

DOI: 10.1371/journal.pone.0279132.s004

DOI: 10.1371/journal.pone.0279132.s005

Language: English

Publisher: Public Library of Science (PLoS)

Publication Date: 2022

detail.hit.zdb_id: 2267670-3

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Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

Kunkle, Brian W. ; Alzheimer Disease Genetics Consortium (ADGC) ; Grenier-Boley, Benjamin ; [et al.]

Springer Science and Business Media LLC ; 2019

In: Nature Genetics Vol. 51, No. 9 ( 2019-09), p. 1423-1424

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 51, No. 9 ( 2019-09), p. 1423-1424

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/s41588-019-0495-7

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2019

detail.hit.zdb_id: 1494946-5

SSG: 12

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Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel : A Meta-analysis

Kunkle, Brian W. ; Schmidt, Michael ; Klein, Hans-Ulrich ; [et al.]

American Medical Association (AMA) ; 2021

In: JAMA Neurology Vol. 78, No. 1 ( 2021-01-01), p. 102-

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In: JAMA Neurology, American Medical Association (AMA), Vol. 78, No. 1 ( 2021-01-01), p. 102-

Type of Medium: Online Resource

ISSN: 2168-6149

URL: Article

DOI: 10.1001/jamaneurol.2020.3536

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2021

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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Sims, Rebecca ; ARUK Consortium ; van der Lee, Sven J ; [et al.]

Springer Science and Business Media LLC ; 2017

In: Nature Genetics Vol. 49, No. 9 ( 2017-9), p. 1373-1384

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In: Nature Genetics, Springer Science and Business Media LLC, Vol. 49, No. 9 ( 2017-9), p. 1373-1384

Type of Medium: Online Resource

ISSN: 1061-4036 , 1546-1718

URL: Article

DOI: 10.1038/ng.3916

RVK:

XA 10000

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2017

detail.hit.zdb_id: 1494946-5

SSG: 12

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Rarity of the Alzheimer Disease–Protective APP A673T Variant in the United States

Wang, Li-San ; Naj, Adam C. ; Graham, Robert R. ; [et al.]

American Medical Association (AMA) ; 2015

In: JAMA Neurology Vol. 72, No. 2 ( 2015-02-01), p. 209-

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In: JAMA Neurology, American Medical Association (AMA), Vol. 72, No. 2 ( 2015-02-01), p. 209-

Type of Medium: Online Resource

ISSN: 2168-6149

URL: Article

DOI: 10.1001/jamaneurol.2014.2157

Language: English

Publisher: American Medical Association (AMA)

Publication Date: 2015

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Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study

Reiman, Eric M. ; Arboleda-Velasquez, Joseph F. ; Quiroz, Yakeel T. ; [et al.]

Springer Science and Business Media LLC ; 2020

In: Nature Communications Vol. 11, No. 1 ( 2020-02-03)

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In: Nature Communications, Springer Science and Business Media LLC, Vol. 11, No. 1 ( 2020-02-03)

Abstract: Each additional copy of the apolipoprotein E4 (APOE4) allele is associated with a higher risk of Alzheimer’s dementia, while the APOE2 allele is associated with a lower risk of Alzheimer’s dementia, it is not yet known whether APOE2 homozygotes have a particularly low risk. We generated Alzheimer’s dementia odds ratios and other findings in more than 5,000 clinically characterized and neuropathologically characterized Alzheimer’s dementia cases and controls. APOE2/2 was associated with a low Alzheimer’s dementia odds ratios compared to APOE2/3 and 3/3, and an exceptionally low odds ratio compared to APOE4/4, and the impact of APOE2 and APOE4 gene dose was significantly greater in the neuropathologically confirmed group than in more than 24,000 neuropathologically unconfirmed cases and controls. Finding and targeting the factors by which APOE and its variants influence Alzheimer’s disease could have a major impact on the understanding, treatment and prevention of the disease.

Type of Medium: Online Resource

ISSN: 2041-1723

URL: Article

DOI: 10.1038/s41467-019-14279-8

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2020

detail.hit.zdb_id: 2553671-0

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Manifestations of Alzheimer’s disease genetic risk in the blood are evident in a multiomic analysis in healthy adults aged 18 to 90

Heath, Laura ; Earls, John C. ; Magis, Andrew T. ; [et al.]

Springer Science and Business Media LLC ; 2022

In: Scientific Reports Vol. 12, No. 1 ( 2022-04-12)

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In: Scientific Reports, Springer Science and Business Media LLC, Vol. 12, No. 1 ( 2022-04-12)

Abstract: Genetics play an important role in late-onset Alzheimer’s Disease (AD) etiology and dozens of genetic variants have been implicated in AD risk through large-scale GWAS meta-analyses. However, the precise mechanistic effects of most of these variants have yet to be determined. Deeply phenotyped cohort data can reveal physiological changes associated with genetic risk for AD across an age spectrum that may provide clues to the biology of the disease. We utilized over 2000 high-quality quantitative measurements obtained from blood of 2831 cognitively normal adult clients of a consumer-based scientific wellness company, each with CLIA-certified whole-genome sequencing data. Measurements included: clinical laboratory blood tests, targeted chip-based proteomics, and metabolomics. We performed a phenome-wide association study utilizing this diverse blood marker data and 25 known AD genetic variants and an AD-specific polygenic risk score (PGRS), adjusting for sex, age, vendor (for clinical labs), and the first four genetic principal components; sex-SNP interactions were also assessed. We observed statistically significant SNP-analyte associations for five genetic variants after correction for multiple testing (for SNPs in or near NYAP1 , ABCA7 , INPP5D , and APOE ), with effects detectable from early adulthood. The ABCA7 SNP and the APOE2 and APOE4 encoding alleles were associated with lipid variability, as seen in previous studies; in addition, six novel proteins were associated with the e2 allele. The most statistically significant finding was between the NYAP1 variant and PILRA and PILRB protein levels, supporting previous functional genomic studies in the identification of a putative causal variant within the PILRA gene. We did not observe associations between the PGRS and any analyte. Sex modified the effects of four genetic variants, with multiple interrelated immune-modulating effects associated with the PICALM variant. In post-hoc analysis, sex-stratified GWAS results from an independent AD case–control meta-analysis supported sex-specific disease effects of the PICALM variant, highlighting the importance of sex as a biological variable. Known AD genetic variation influenced lipid metabolism and immune response systems in a population of non-AD individuals, with associations observed from early adulthood onward. Further research is needed to determine whether and how these effects are implicated in early-stage biological pathways to AD. These analyses aim to complement ongoing work on the functional interpretation of AD-associated genetic variants.

Type of Medium: Online Resource

ISSN: 2045-2322

URL: Article

DOI: 10.1038/s41598-022-09825-2

Language: English

Publisher: Springer Science and Business Media LLC

Publication Date: 2022

detail.hit.zdb_id: 2615211-3

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