Evidence map›Paper›PMID 20090771›Full record

ArticleGenes and immunity2010

Supervised machine learning and logistic regression identifies novel epistatic risk factors with PTPN22 for rheumatoid arthritis.

F B S Briggs, P P Ramsay, E Madden, J M Norris, V M Holers, T R Mikuls, T Sokka, M F Seldin, P K Gregersen, L A Criswell and 1 more

Open access · greenAbstract read
In one paragraph

Article in Genes and immunity, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
1.2field-weighted citation impact, top 22% of its field
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

23 citing papers in PubMed, 45 citations in OpenAlex.

  1. Review
  2. Review
  3. Review
  4. Article
  5. Article
  6. Review
  7. Article
  8. Review
  9. Review
  10. Review
  11. Brief Survey on Machine Learning in Epistasis.Methods in molecular biology (Clifton, N.J.) · 2021
    Review
  12. Review
  13. Article
  14. Review
  15. Article
  16. Article
  17. Insights and Implications of the VA Rheumatoid Arthritis Registry.Federal practitioner : for the health care professionals of the VA, DoD, and PHS · 2015
    Review
  18. Article
  19. Article
  20. 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

11 authors at 7 institutions in 2 countries.

F B S BriggsUniversity of California, Berkeley, 94720, USA.
P P Ramsay
E Madden
J M Norris
V M Holers
T R Mikuls
T Sokka
M F Seldin
P K Gregersen
L A Criswell
L F Barcellos
University of California, Berkeley · USUniversity of Colorado Denver · USCentral Finland Health Care District · FIFeinstein Institute for Medical Research · USOmaha VA Medical Center · USUniversity of California, Davis · USUniversity of California, San Francisco · US

Funding

ZD1839 FOR MALIGNANT ASTROCYTOMA OR GLIOBLASTOMA AND MENINGIOMAM01RR000079 · NCRR · UNIVERSITY OF CALIFORNIA, SAN FRANCISCO · PI KESSLER, DAVID A · 1985 to 2006
$26.0M
NARAC The Genetics of Rheumatoid ArthritisR01AR044422 · NIAMS · NORTH SHORE UNIVERSITY HOSPITAL · PI GREGERSEN, PETER K. · 1997 to 2011
$6.0M
ZAP-70, A T CELL RECEPTOR ZETA CHAIN ASSOCIATED PROTEINP60AR020684 · NIAMS · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI LOTZ, JEFFREY CHARLES · 1986 to 2002
$3.5M
RA-Related Autoantibodies in Healthy FDR of RA PatientsR01AR051394 · NIAMS · UNIVERSITY OF COLORADO DENVER · PI NORRIS, JILL M · 2005 to 2011
$3.0M
The Genetic Epidemiology of RA and SLEK24AR002175 · NIAMS · UNIVERSITY OF CALIFORNIA SAN FRANCISCO · PI CRISWELL, LINDSEY ANN · 2001 to 2005
$555k
CONTINUATION OF THE GENETICS OF RHEUMATOID ARTHRITIS-264022263N01AR022263 · NIAMS · NORTH SHORE-LONG ISLAND JEWISH · 2002 to 2005
–
NCRR NIH HHS 5 MO1 RR-00079NCRR NIH HHS M01 RR000079NIAMS NIH HHS K24 AR002175NIAMS NIH HHS K24 AR02175NIAMS NIH HHS N01-AR-2-2263NIAMS NIH HHS P60 AR 20684NIAMS NIH HHS R01 AR044422NIAMS NIH HHS R01 AR051394NIAMS NIH HHS R01 AR44422
6 · The paper itself

Abstract

Investigating genetic interactions (epistasis) has proven difficult despite the recent advances of both laboratory methods and statistical developments. With no 'best' statistical approach available, combining several analytical methods may be optimal for detecting epistatic interactions. Using a multi-stage analysis that incorporated supervised machine learning and methods of association testing, we investigated epistatic interactions with a well-established genetic factor (PTPN22 1858T) in a complex autoimmune disease (rheumatoid arthritis (RA)). Our analysis consisted of four principal stages: Stage I (data reduction)-identifying candidate chromosomal regions in 292 affected sibling pairs, by predicting PTPN22 concordance using multipoint identity-by-descent probabilities and a supervised machine learning algorithm (Random Forests); Stage II (extension analysis)-testing detailed genetic data within candidate chromosomal regions for epistasis with PTPN22 1858T in 677 cases and 750 controls using logistic regression; Stage III (replication analysis)-confirmation of epistatic interactions in 947 cases and 1756 controls; Stage IV (combined analysis)-a pooled analysis including all 1624 RA cases and 2506 control subjects for final estimates of effect size. A total of seven replicating epistatic interactions were identified. SNP variants within CDH13, MYO3A, CEP72 and near WFDC1 showed significant evidence for interaction with PTPN22, affecting susceptibility to RA.

Indexed as

Artificial IntelligenceLogistic ModelsArthritis, RheumatoidEpistasis, GeneticGenetic Predisposition to DiseaseGenome-Wide Association StudyGenotypeHumansPolymorphism, Single NucleotideProtein Tyrosine Phosphatase, Non-Receptor Type 22Risk AssessmentRisk FactorsSiblingsProtein Tyrosine Phosphatase, Non-Receptor Type 22PTPN22 protein, human

Identifiers

PMID20090771
PMCPMC3118040
OpenAlexW2028545119

What OpenQuestion holds

Textmetadata
LicenceTDM
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 OpenQuestion graph.