Evidence map›Paper›PMID 17940814›Full record

ArticleNeurogenetics2008

Age-at-onset linkage analysis in Caribbean Hispanics with familial late-onset Alzheimer's disease.

Joseph H Lee, Sandra Barral, Rong Cheng, Inara Chacon, Vincent Santana, Jennifer Williamson, Rafael Lantigua, Martin Medrano, Ivonne Z Jimenez-Velazquez, Yaakov Stern and 6 more

Open access · greenAbstract read
In one paragraph

Article in Neurogenetics, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
24citing papers in PubMed, 1 pooled it
1.0field-weighted citation impact, top 26% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

24 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Mendelian Inconsistent Signatures from 1314 Ancestrally Diverse Family Trios Distinguish Biological Variation from Sequencing Error.Journal of computational biology : a journal of computational molecular cell biology · 2019
    Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Genomic variants, genes, and pathways of Alzheimer's disease: An overview.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2017
    Review
  11. Article
  12. Article
  13. Article
  14. The sodium leak channel, NALCN, in health and disease.Frontiers in cellular neuroscience · 2014
    Review
  15. Genome scan in familial late-onset Alzheimer's disease: a locus on chromosome 6 contributes to age-at-onset.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2013
    Article
  16. Article
  17. Article
  18. Genome scan of age-at-onset in the NIMH Alzheimer disease sample uncovers multiple loci, along with evidence of both genetic and sample heterogeneity.American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics · 2011
    Article
  19. Ethnoracial differences in the clinical characteristics of Alzheimer's disease at initial presentation at an urban Alzheimer's disease center.The American journal of geriatric psychiatry : official journal of the American Association for Geriatric Psychiatry · 2011
    Article
  20. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

16 authors at 5 institutions in 4 countries.

Joseph H LeeThe Taub Institute on Alzheimer's Disease and the Aging Brain, Columbia University, New York, NY 10032, USA.
Sandra Barral
Rong Cheng
Inara Chacon
Vincent Santana
Jennifer Williamson
Rafael Lantigua
Martin Medrano
Ivonne Z Jimenez-Velazquez
Yaakov Stern
Benjamin Tycko
Ekaterina Rogaeva
Yosuke Wakutani
Toshitaka Kawarai
Peter St George-Hyslop
Richard Mayeux
Columbia University · USToronto Western Hospital · CAUniversity of Toronto · CAUniversidad Tecnológica de Santiago · DOUniversity of Puerto Rico System · PR

Funding

VASCULAR FACTORS AND MILD COGNITIVE IMPAIRMENT AND ALZHEIMER'S DISEASEP01AG007232 · NIA · COLUMBIA UNIV NEW YORK MORNINGSIDE · PI LUCHSINGER, JOSE ALEJANDRO · 1989 to 2008
$21.7M
Genetic Epidemiology of Alzheimer's Disease in HispanicsR37AG015473 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P · 2004 to 2013
$10.8M
Epigenomics of Alzheimer's DiseaseR01AG036040 · NIA · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI MAYEUX, RICHARD P, TYCKO, BENJAMIN · 2009 to 2013
$3.3M
MAMMALIAN GENOTYPING SERVICEN01HV048141 · HV · MARSHFIELD CLINIC RESEARCH FOUNDATION · PI WEBER, JAMES L. · 1994 to 2000
$3.1M
NHLBI NIH HHS HV48141NHLBI NIH HHS N01 HV048141NIA NIH HHS P01 AG007232NIA NIH HHS R01 AG036040NIA NIH HHS R37 AG015473NIA NIH HHS R37 AG15473Wellcome Trust 081864
6 · The paper itself

Abstract

The aim of the study was to identify chromosomal regions that may harbor putative genetic variants influencing age at onset in familial late-onset Alzheimer's disease (LOAD). Data from a genome-wide scan that included genotyping of APOE were analyzed in 1,161 individuals from 209 families of Caribbean Hispanic ancestry with a mean age at onset of 73.3 years multiply affected by LOAD. Two-point and multipoint analyses were conducted using variance component methods using 376 microsatellite markers with an average intermarker distance of 9.3 cM. Family-based test of association was also conducted for the same set of markers. Age at onset of symptoms among affected individuals was used as the quantitative trait. Our results showed that the presence of APOE-epsilon4 lowered the age at onset by 3 years. Several candidate loci were identified. Using linkage analysis strategy, the highest logarithm of odds (LOD) scores were obtained using a conservative definition of LOAD at 5q15 (LOD = 3.1), 17q25.1 (LOD = 2.94), 14q32.12 (LOD = 2.36), and 7q36.3 (LOD = 2.29) in a model that adjusted for APOE-epsilon4 and other covariates. Both linkage and family-based association identified 17p13 as a candidate region. Family-based association analysis showed markers at 12q13 (p = 0.00002), 13q33 (p = 0.00043), and 14q23 (p = 0.00046) to be significantly associated with age at onset. The current study supports the hypothesis that there are additional genetic loci that could influence age at onset of late onset Alzheimer's disease. The novel loci at 5q15, 17q25.1, 13q33, and 17p13 and the previously reported loci at 7q36.3, 12q13, 14q23, and 14q32 need further investigation.

Indexed as

Genetic LinkageAdultAgedAged, 80 and overAge of OnsetAlzheimer DiseaseApolipoprotein E4Caribbean RegionFemaleHispanic or LatinoHumansLod ScoreMaleMicrosatellite RepeatsMiddle AgedPresenilin-1Apolipoprotein E4Presenilin-1PSEN1 protein, human

Identifiers

PMID17940814
PMCPMC2701253
OpenAlexW2038987291

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.