Evidence map›Paper›PMID 30655379›Full record

ArticleDiabetes care2019

Development and Standardization of an Improved Type 1 Diabetes Genetic Risk Score for Use in Newborn Screening and Incident Diagnosis.

Seth A Sharp, Stephen S Rich, Andrew R Wood, Samuel E Jones, Robin N Beaumont, James W Harrison, Darius A Schneider, Jonathan M Locke, Jess Tyrrell, Michael N Weedon and 2 more

Registry-linked trialOpen access · bronzeAbstract readValidation Study
In one paragraph

Article in Diabetes care, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05013346 (Understanding the Characteristics of Young-onset Diabetes in Sub-Saharan Africa), which is not on this map. Cited by 249 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
249citing papers in PubMed, 1 pooled it
24.7field-weighted citation impact, top 1% 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.

NCT05013346 unknown statusnot on this map

Understanding the Characteristics of Young-onset Diabetes in Sub-Saharan Africa

TypeobservationalSponsorYaounde Central HospitalRan2019 to 2022Enrolled1,200ConditionsType 1 Diabetes, Diabetes, AutoimmuneArmsNo intervention needed
3 · Its place in the literature

Who cites it

249 citing papers in PubMed, 1 synthesis or guideline pooled it, 373 citations in OpenAlex.

  1. Guideline
  2. Observational
  3. ProtectiveiScience · 2026
    Article
  4. Article
  5. Article
  6. Review
  7. Review
  8. Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Article
  15. Article
  16. Review
  17. Role of genetic risk on progression to diabetes in children with acute pancreatitis.medRxiv : the preprint server for health sciences · 2026
    Article
  18. New and emerging therapies in type 1 diabetes mellitus.The Journal of clinical investigation · 2026
    Review
  19. Article
  20. Review

189 more citing papers are in PubMed but not listed here.

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

12 authors at 3 institutions in 2 countries.

Seth A SharpInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Stephen S RichCenter for Public Health Genomics, University of Virginia, Charlottesville, VA.ORCID 0000-0003-3872-7793
Andrew R WoodInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Samuel E JonesInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Robin N BeaumontInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
James W HarrisonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Darius A SchneiderPacific Northwest Diabetes Research Institute, Seattle, WA.
Jonathan M LockeInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.ORCID 0000-0001-9516-5251
Jess TyrrellInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Michael N WeedonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
William A HagopianPacific Northwest Diabetes Research Institute, Seattle, WA r.oram@exeter.ac.uk wah@uw.edu.
Richard A OramInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K. r.oram@exeter.ac.uk wah@uw.edu.ORCID 0000-0003-3581-8980
University of Exeter · GBPacific Northwest Diabetes Research Institute · USUniversity of Virginia · US

Funding

Vector and Transgenic Mouse CoreP30DK017047 · NIDDK · UNIVERSITY OF WASHINGTON · PI Karin E Bornfeldt · 1986 to 2026
$41.4M
The Environmental Determinants of Diabetes in Youth: Washington Clinical CenterU01DK063829 · NIDDK · PACIFIC NORTHWEST RESEARCH INSTITUTE · PI HAGOPIAN, WILLIAM A. · 2003 to 2022
$11.8M
Diabetes, Obesity and Metabolism Training ProgramT32DK007247 · NIDDK · UNIVERSITY OF WASHINGTON · PI GREGORY J MORTON, KRISTINA Marie UTZSCHNEIDER · 1986 to 2026
$10.0M
Rare Variants and Risk of Type 1 DiabetesR01DK096926 · NIDDK · UNIVERSITY OF VIRGINIA · PI RICH, STEPHEN S. · 2012 to 2015
$2.3M
Medical Research Council MC_PC_15047NIDDK NIH HHS P30 DK017047NIDDK NIH HHS R01 DK096926NIDDK NIH HHS T32 DK007247NIDDK NIH HHS U01 DK063829Wellcome TrustWellcome Trust WT097835MF
6 · The paper itself

Abstract

objectivePreviously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have not captured all known information at non-HLA loci or, particularly, at HLA risk loci. We aimed to more completely incorporate HLA alleles, their interactions, and recently discovered non-HLA loci into an improved T1D GRS (termed the "T1D GRS2") to better discriminate diabetes subtypes and to predict T1D in newborn screening studies. RESEARCH DESIGN AND

methodsIn 6,481 case and 9,247 control subjects from the Type 1 Diabetes Genetics Consortium, we analyzed variants associated with T1D both in the HLA region and across the genome. We modeled interactions between variants marking strongly associated HLA haplotypes and generated odds ratios to create the improved GRS, the T1D GRS2. We validated our findings in UK Biobank. We assessed the impact of the T1D GRS2 in newborn screening and diabetes classification and sought to provide a framework for comparison with previous scores.

resultsThe T1D GRS2 used 67 single nucleotide polymorphisms (SNPs) and accounted for interactions between 18 HLA DR-DQ haplotype combinations. The T1D GRS2 was highly discriminative for all T1D (area under the curve [AUC] 0.92;

conclusionsAn improved T1D GRS, the T1D GRS2, is highly useful for classifying adult incident diabetes type and improving newborn screening. Given the cost-effectiveness of SNP genotyping, this approach has great clinical and research potential in T1D.

Indexed as

Genetic TestingAllelesCase-Control StudiesDiabetes Mellitus, Type 1FemaleGenetic Predisposition to DiseaseHaplotypesHLA AntigensHumansIncidenceInfant, NewbornMaleNeonatal ScreeningPolymorphism, Single NucleotideQuality ImprovementReference StandardsHLA Antigens

Identifiers

PMID30655379
PMCPMC6341291
OpenAlexW2909847496

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

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.