Evidence map›Paper›PMID 20680405›Full record

ArticleGenetica2010

Confounding from cryptic relatedness in haplotype-based association studies.

Feng Zhang, Hong-Wen Deng

Abstract read
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In one paragraph

Article in Genetica, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing 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

3 citing papers in PubMed.

  1. Bayesian LASSO for population stratification correction in rare haplotype association studies.Statistical applications in genetics and molecular biology · 2024
    Article
  2. Article
  3. Review
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

2 authors.

Feng ZhangCollege of Medicine, Xi'an Jiaotong University, 710061 Xi'an, People's Republic of China. fzhxjtu@mail.xjtu.edu.cn
Hong-Wen Deng

Funding

Proteome-wide Expression Study of Osteogenic CellsP50AR055081 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2012
$5.0M
ROBUST AND POWERFUL TEST OF CANDIDATE GENES TO BONE MASSR01AR050496 · NIAMS · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2004 to 2013
$3.8M
Genomic search for bone mass QTLsR01AG026564 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2007 to 2010
$2.3M
Proteomics Study of Peripheral Blood Monocytes on OsteroporsisR21AG027110 · NIA · UNIVERSITY OF MISSOURI KANSAS CITY · PI DENG, HONG-WEN · 2006 to 2007
$367k
Alcohol Dependence Genetics in a Large Chinese PedigreeR21AA015973 · NIAAA · YALE UNIVERSITY · PI GELERNTER, JOEL · 2007 to 2008
$345k
NIAAA NIH HHS R21 AA015973NIAMS NIH HHS P50 AR055081NIAMS NIH HHS R01 AR050496NIA NIH HHS R01AG026564NIA NIH HHS R21 AG027110
6 · The paper itself

Abstract

Cryptic relatedness was suggested to be an important source of confounding in population-based association studies (PBAS). The impact of cryptic relatedness on the performance of haplotype phase inference and haplotype-based association tests is not clear. In this study, we used the Hapmap genetic data to simulate a set of related samples. We evaluated the accuracy of haplotype phase inferred by PHASE 2.1 and calculated the power, type I error rates, accuracy and positive prediction value (PPV) of haplotype frequency-based association tests (HFAT) and haplotype similarity-based association tests (HSAT) under various scenarios, considering relatedness levels, disease models and sample sizes. Cryptic relatedness appeared to slightly increase the accuracy of haplotype phase inference. We observed significant negative effect of cryptic relatedness on the performance of HFAT and HSAT. Ignoring cryptic relatedness may increase spurious association results in haplotype-based PBAS.

Indexed as

Computer SimulationHaplotypesModels, StatisticalConfounding Factors, EpidemiologicGenetic Predisposition to DiseaseHumansModels, GeneticPolymorphism, Single NucleotideSample Size

Identifiers

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Registered trials

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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.