Evidence map›Paper›PMID 28017371›Full record

ArticleAmerican journal of human genetics2017

Mixed Model Association with Family-Biased Case-Control Ascertainment.

Tristan J Hayeck, Po-Ru Loh, Samuela Pollack, Alexander Gusev, Nick Patterson, Noah A Zaitlen, Alkes L Price

Abstract read
In one paragraph

Article in American journal of human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.

0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
–field-weighted citation impact
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

9 citing papers in PubMed.

  1. Article
  2. Article
  3. SPANature communications · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. 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

7 authors.

Tristan J HayeckInstitute for Genomic Medicine, Columbia University, New York, NY 10032, USA; Department of Biostatistics, Columbia University, New York, NY 10032, USA. Electronic address: tjh488@mail.harvard.edu.
Po-Ru LohProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Samuela PollackProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Alexander GusevProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA.
Nick PattersonProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA.
Noah A ZaitlenDepartment of Medicine, Lung Biology Center, University of California, San Francisco, CA 94158, USA.
Alkes L PriceProgram in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA; Department of Epidemiology, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA. Electronic address: aprice@hsph.harvard.edu.

Funding

GRADUATE TRAINING IN BIOSTATISTICST32ES007142 · NIEHS · HARVARD UNIVERSITY (SCH OF PUBLIC HLTH) · PI Brent Andrew Coull · 1985 to 2026
$11.9M
Methods for Genome-wide Association Studies in Admixed PopulationsR01HG006399 · NHGRI · HARVARD UNIVERSITY D/B/A HARVARD SCHOOL OF PUBLIC HEALTH · PI PRICE, ALKES L · 2011 to 2024
$6.3M
Richer Models of Asthma Risk: Bridging the Environment-Genetics DivideK25HL121295 · NHLBI · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI ZAITLEN, NOAH A · 2014 to 2018
$784k
NHGRI NIH HHS R01 HG006399NHLBI NIH HHS K25 HL121295NIEHS NIH HHS T32 ES007142
6 · The paper itself

Abstract

Mixed models have become the tool of choice for genetic association studies; however, standard mixed model methods may be poorly calibrated or underpowered under family sampling bias and/or case-control ascertainment. Previously, we introduced a liability threshold-based mixed model association statistic (LTMLM) to address case-control ascertainment in unrelated samples. Here, we consider family-biased case-control ascertainment, where case and control subjects are ascertained non-randomly with respect to family relatedness. Previous work has shown that this type of ascertainment can severely bias heritability estimates; we show here that it also impacts mixed model association statistics. We introduce a family-based association statistic (LT-Fam) that is robust to this problem. Similar to LTMLM, LT-Fam is computed from posterior mean liabilities (PML) under a liability threshold model; however, LT-Fam uses published narrow-sense heritability estimates to avoid the problem of biased heritability estimation, enabling correct calibration. In simulations with family-biased case-control ascertainment, LT-Fam was correctly calibrated (average χ

Indexed as

FamilyModels, GeneticBiasCalibrationDiabetes Mellitus, Type 2Genetic Association StudiesGenotypeHumansPhenotypePolymorphism, Single NucleotideRetrospective Studies

Identifiers

PMID28017371
PMCPMC5223022

What Socratic 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 Socratic graph.