Evidence map›Paper›PMID 21805149›Full record

ArticleHuman genetics2012

Analysis of family- and population-based samples in cohort genome-wide association studies.

Ani Manichaikul, Wei-Min Chen, Kayleen Williams, Quenna Wong, Michèle M Sale, James S Pankow, Michael Y Tsai, Jerome I Rotter, Stephen S Rich, Josyf C Mychaleckyj

Abstract read
In one paragraph

Article in Human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 1 pooled it
1.8field-weighted citation impact, top 15% 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

14 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Article
  5. Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2017
    Article
  6. Article
  7. Childhood-Onset Essential Hypertension and the Family Structure.Journal of clinical hypertension (Greenwich, Conn.) · 2016
    Observational
  8. Article
  9. Article
  10. Article
  11. Gene-gene interactions in APOL1-associated nephropathy.Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association · 2014
    Article
  12. Article
  13. Article
  14. 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

10 authors at 4 institutions in 1 country.

Ani ManichaikulCenter for Public Health Genomics, University of Virginia, Charlottesville, VA 22908, USA.
Wei-Min Chen
Kayleen Williams
Quenna Wong
Michèle M Sale
James S Pankow
Michael Y Tsai
Jerome I Rotter
Stephen S Rich
Josyf C Mychaleckyj
University of Virginia · USThe Coordinating Center · USUniversity of Minnesota · USCedars-Sinai Medical Center · US

Funding

UCLA Clinical and Translational Science InstituteUL1TR000124 · NCATS · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI DUBINETT, STEVEN M. · 2012 to 2015
$57.0M
CTSA INFRASTRUCTURE FOR PEDIATRIC RESEARCHUL1RR024156 · NCRR · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI GINSBERG, HENRY N · 2006 to 2011
$53.0M
Transgenic & Knock-out MouseP30DK063491 · NIDDK · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI MILES Frome WILKINSON · 2003 to 2026
$40.4M
Multi-Ethnic Study of Atherosclerosis (MESA) StudyR01HL071205 · NHLBI · CEDARS-SINAI MEDICAL CENTER · PI ROTTER, JEROME I · 2003 to 2007
$10.4M
MESA Family Study - Columbia University Field CenterR01HL071252 · NHLBI · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SHEA, STEVEN J · 2003 to 2007
$1.3M
MESA Family StudyR01HL071250 · NHLBI · NORTHWESTERN UNIVERSITY AT CHICAGO · PI LIU, KIANG JOHN · 2003 to 2007
$991k
MESA Family StudyR01HL071258 · NHLBI · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI BURKE, GREGORY L · 2003 to 2007
$918k
MESA Family StudyR01HL071259 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI POST, WENDY S · 2003 to 2007
$878k
MESA Family StudyR01HL071051 · NHLBI · UNIVERSITY OF CALIFORNIA LOS ANGELES · PI WATSON, KAROL E · 2003 to 2007
$875k
SLEEP AND ENTRAINMENT OF SCN FUNCTIONR01HL064278 · NHLBI · CASE WESTERN RESERVE UNIVERSITY · PI STROHL, KINGMAN PERKINS · 1999 to 2002
$871k
MESA Family StudyR01HL071251 · NHLBI · UNIVERSITY OF MINNESOTA TWIN CITIES · PI PANKOW, JAMES S · 2003 to 2007
$844k
SUBCLINICAL CARDIOVASCULAR DISEASE COORDINATING CENTER-N01HC95159-268095159N01HC095159 · HC · UNIVERSITY OF WASHINGTON · PI KRONMAL, RICHARD A · 1999 to 2006
$304k
NCATS NIH HHS UL1 TR000124NCRR NIH HHS RR-024156NCRR NIH HHS UL1 RR024156NHLBI NIH HHS N01 HC095159NHLBI NIH HHS N01 HC095169NHLBI NIH HHS N01-HC-95159NHLBI NIH HHS N01-HC-95169NHLBI NIH HHS N02-HL-6-4278NHLBI NIH HHS R01 HL071051NHLBI NIH HHS R01HL071051NHLBI NIH HHS R01 HL071205NHLBI NIH HHS R01HL071205NHLBI NIH HHS R01 HL071250NHLBI NIH HHS R01HL071250NHLBI NIH HHS R01 HL071251NHLBI NIH HHS R01HL071251NHLBI NIH HHS R01 HL071252NHLBI NIH HHS R01HL071252NHLBI NIH HHS R01 HL071258NHLBI NIH HHS R01HL071258NHLBI NIH HHS R01 HL071259NHLBI NIH HHS R01HL071259NIDDK NIH HHS P30 DK063491
6 · The paper itself

Abstract

Cohort studies typically sample unrelated individuals from a population, although family members of index cases may also be recruited to investigate shared familial risk factors. Recruitment of family members may be incomplete or ancillary to the main cohort, resulting in a mixed sample of independent family units, including unrelated singletons and multiplex families. Multiple methods are available to perform genome-wide association (GWA) analysis of binary or continuous traits in families, but it is unclear whether methods known to perform well on ascertained pedigrees, sibships, or trios are appropriate in analysis of a mixed unrelated cohort and family sample. We present simulation studies based on Multi-Ethnic Study of Atherosclerosis (MESA) pedigree structures to compare the performance of several popular methods of GWA analysis for both quantitative and dichotomous traits in cohort studies. We evaluate approaches suitable for analysis of families, and combined the best performing methods with population-based samples either by meta-analysis, or by pooled analysis of family- and population-based samples (mega-analysis), comparing type 1 error and power. We further assess practical considerations, such as availability of software and ability to incorporate covariates in statistical modeling, and demonstrate our recommended approaches through quantitative and binary trait analysis of HDL cholesterol (HDL-C) in 2,553 MESA family- and population-based African-American samples. Our results suggest linear modeling approaches that accommodate family-induced phenotypic correlation (e.g., variance-component model for quantitative traits or generalized estimating equations for dichotomous traits) perform best in the context of combined family- and population-based cohort GWAS.

Indexed as

Cohort StudiesFamilyPopulation GroupsGenome-Wide Association StudyHumansModels, GeneticPolymorphism, Single NucleotideQuantitative Trait Loci

Identifiers

PMID21805149
PMCPMC3369696
OpenAlexW1993614440

What Socratic holds

Textmetadata
LicenceTDM
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 Socratic graph.