Evidence map›Paper›PMID 27273519›Full record

ArticleScientific reports2016

A method to estimate the contribution of regional genetic associations to complex traits from summary association statistics.

Guillaume Pare, Shihong Mao, Wei Q Deng

Abstract read
In one paragraph

Article in Scientific reports, 2016. 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.

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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

3 authors.

Guillaume PareDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, ON L8S 4L8, Canada.
Shihong MaoPopulation Health Research Institute, Hamilton Health Sciences and McMaster University, Hamilton, ON L8L 2X2, Canada.
Wei Q DengDepartment of Statistical Sciences, University of Toronto, Toronto, ON M5S 3G3, Canada.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Despite considerable efforts, known genetic associations only explain a small fraction of predicted heritability. Regional associations combine information from multiple contiguous genetic variants and can improve variance explained at established association loci. However, regional associations are not easily amenable to estimation using summary association statistics because of sensitivity to linkage disequilibrium (LD). We now propose a novel method, LD Adjusted Regional Genetic Variance (LARGV), to estimate phenotypic variance explained by regional associations using summary statistics while accounting for LD. Our method is asymptotically equivalent to a multiple linear regression model when no interaction or haplotype effects are present. It has several applications, such as ranking of genetic regions according to variance explained or comparison of variance explained by two or more regions. Using height and BMI data from the Health Retirement Study (N = 7,776), we show that most genetic variance lies in a small proportion of the genome and that previously identified linkage peaks have higher than expected regional variance.

Indexed as

Models, GeneticModels, StatisticalMultifactorial InheritanceAlgorithmsGenetic Association StudiesGenetic LinkageGenetic VariationGenome-Wide Association StudyGenotypeHumansLinkage DisequilibriumPhenotypePolymorphism, Single Nucleotide

Identifiers

PMID27273519
PMCPMC4897708

What OpenQuestion holds

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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.