Evidence map›Paper›PMID 23281813›Full record

ArticleBMC genomics2012

iLOCi: a SNP interaction prioritization technique for detecting epistasis in genome-wide association studies.

Jittima Piriyapongsa, Chumpol Ngamphiw, Apichart Intarapanich, Supasak Kulawonganunchai, Anunchai Assawamakin, Chaiwat Bootchai, Philip J Shaw, Sissades Tongsima

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Article in BMC genomics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.

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14citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

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3 · Its place in the literature

Who cites it

14 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Predictive SNPs for βScientific reports · 2021
    Observational
  6. Review
  7. Article
  8. Article
  9. Article
  10. Detecting epistasis in human complex traits.Nature reviews. Genetics · 2014
    Review
  11. Review
  12. Article
  13. Article
  14. Article
4 · The record

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5 · Who and what money

Authors and funding

8 authors.

Jittima PiriyapongsaNational Center for Genetic Engineering and Biotechnology, Pathumthani, 12120, Thailand.
Chumpol Ngamphiw
Apichart Intarapanich
Supasak Kulawonganunchai
Anunchai Assawamakin
Chaiwat Bootchai
Philip J Shaw
Sissades Tongsima

Funding

Wellcome Trust 076113Wellcome Trust 085475
6 · The paper itself

Abstract

backgroundGenome-wide association studies (GWAS) do not provide a full account of the heritability of genetic diseases since gene-gene interactions, also known as epistasis are not considered in single locus GWAS. To address this problem, a considerable number of methods have been developed for identifying disease-associated gene-gene interactions. However, these methods typically fail to identify interacting markers explaining more of the disease heritability over single locus GWAS, since many of the interactions significant for disease are obscured by uninformative marker interactions e.g., linkage disequilibrium (LD).

resultsIn this study, we present a novel SNP interaction prioritization algorithm, named iLOCi (Interacting Loci). This algorithm accounts for marker dependencies separately in case and control groups. Disease-associated interactions are then prioritized according to a novel ranking score calculated from the difference in marker dependencies for every possible pair between case and control groups. The analysis of a typical GWAS dataset can be completed in less than a day on a standard workstation with parallel processing capability. The proposed framework was validated using simulated data and applied to real GWAS datasets using the Wellcome Trust Case Control Consortium (WTCCC) data. The results from simulated data showed the ability of iLOCi to identify various types of gene-gene interactions, especially for high-order interaction. From the WTCCC data, we found that among the top ranked interacting SNP pairs, several mapped to genes previously known to be associated with disease, and interestingly, other previously unreported genes with biologically related roles.

conclusioniLOCi is a powerful tool for uncovering true disease interacting markers and thus can provide a more complete understanding of the genetic basis underlying complex disease. The program is available for download at http://www4a.biotec.or.th/GI/tools/iloci.

Indexed as

AlgorithmsGenome-Wide Association StudyEpistasis, GeneticHumansLinkage DisequilibriumPolymorphism, Single NucleotideROC Curve

Identifiers

PMID23281813
PMCPMC3521387

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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.