Evidence map›Paper›PMID 19025789›Full record

ArticleGenetic epidemiology2009

Generalized linear modeling with regularization for detecting common disease rare haplotype association.

Wei Guo, Shili Lin

Abstract read
In one paragraph

Article in Genetic epidemiology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed, 1 pooled it
–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

38 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Bayesian LASSO for population stratification correction in rare haplotype association studies.Statistical applications in genetics and molecular biology · 2024
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  12. Test of rare variant association based on affected sib-pairs.European journal of human genetics : EJHG · 2015
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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.

Wei GuoDepartment of Statistics, The Ohio State University, Columbus, Ohio 43210-1247, USA.
Shili Lin

Funding

CD24 Polymorphism and multiple sclerosisR01NS046696 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI LIU, YANG · 2004 to 2007
$1.2M
NINDS NIH HHS NS046696NINDS NIH HHS R01 NS046696
6 · The paper itself

Abstract

Whole genome association studies (WGAS) have surged in popularity in recent years as technological advances have made large-scale genotyping more feasible and as new exciting results offer tremendous hope and optimism. The logic of WGAS rests upon the common disease/common variant (CD/CV) hypothesis. Detection of association under the common disease/rare variant (CD/RV) scenario is much harder, and the current practices of WGAS may be under-power without large enough sample sizes. In this article, we propose a generalized linear model with regularization (rGLM) approach for detecting disease-haplotype association using unphased single nucleotide polymorphisms data that is applicable to both CD/CV and CD/RV scenarios. We borrow a dimension-reduction method from the data mining and statistical learning literature, but use it for the purpose of weeding out haplotypes that are not associated with the disease so that the associated haplotypes, especially those that are rare, can stand out and be accounted for more precisely. By using high-dimensional data analysis techniques, which are frequently employed in microarray analyses, interacting effects among haplotypes in different blocks can be investigated without much concern about the sample size being overwhelmed by the number of haplotype combinations. Our simulation study demonstrates the gain in power for detecting associations with moderate sample sizes. For detecting association under CD/RV, regression type methods such as that implemented in hapassoc may fail to provide coefficient estimates for rare associated haplotypes, resulting in a loss of power compared to rGLM. Furthermore, our results indicate that rGLM can uncover the associated variants much more frequently than can hapassoc.

Indexed as

HaplotypesLinear ModelsModels, GeneticAlgorithmsDiseaseEpidemiologic MethodsGenetic VariationGenome-Wide Association StudyHumansPolymorphism, Single NucleotideRegression AnalysisSoftware

Identifiers

PMID19025789
PMCPMC2752471

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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.