Evidence map›Paper›PMID 34302048›Full record

ArticleCommunications biology2021

Genetic architecture of type 1 diabetes with low genetic risk score informed by 41 unreported loci.

Hui-Qi Qu, Jingchun Qu, Jonathan Bradfield, Luc Marchand, Joseph Glessner, Xiao Chang, Michael March, Jin Li, John J Connolly, Jeffrey D Roizen and 3 more

Open access · goldAbstract read
In one paragraph

Article in Communications biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

11 citing papers in PubMed, 15 citations in OpenAlex.

  1. Review
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  8. The missing heritability in type 1 diabetes.Diabetes, obesity & metabolism · 2022
    Review
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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

13 authors at 6 institutions in 3 countries.

Hui-Qi QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-9317-4488
Jingchun QuThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-1974-2496
Jonathan BradfieldQuantinuum Research LLC, San Diego, CA, USA.
Luc MarchandDepartment of Pediatrics, McGill University, Montreal, QC, Canada.
Joseph GlessnerThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-5131-2811
Xiao ChangThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0002-0230-0416
Michael MarchThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-9173-6862
Jin LiDepartment of Cell Biology, Tianjin Medical University, Tianjin, China.
John J ConnollyThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Jeffrey D RoizenDepartment of Pediatrics, The Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0002-3384-6200
Patrick SleimanThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Constantin PolychronakosDepartment of Pediatrics, McGill University, Montreal, QC, Canada.ORCID 0000-0002-7624-6635
Hakon HakonarsonThe Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. hakonarson@email.chop.edu.ORCID 0000-0003-2814-7461
Children's Hospital of Philadelphia · USMcGill University · CAMcGill University Health Centre · CAPraevium Research (United States) · USTianjin Medical University · CNUniversity of Pennsylvania · US

Funding

Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics HealthcareU01HG011175 · NHGRI · CHILDREN'S HOSP OF PHILADELPHIA · PI Hakon Hakonarson · 2020 to 2026
$10.3M
Career Development Program in Pediatric Diabetes Research (K12) at CHOPK12DK094723 · NIDDK · CHILDREN'S HOSP OF PHILADELPHIA · PI WILLI, STEVEN M · 2011 to 2020
$3.6M
NHGRI NIH HHS U01 HG011175NIDDK NIH HHS K12 DK094723
6 · The paper itself

Abstract

Type 1 diabetes (T1D) patients with low genetic risk scores (GRS) may be non-autoimmune or autoimmune mediated by other genetic loci. The T1D-GRS2 provides us an opportunity to look into the genetic architecture of these patients. A total of 18,949 European individuals were included in this study, including 6599 T1D cases and 12,323 controls. 957 (14.5%) T1D patients were identified with low GRS (GRS < 8.43). The genome-wide association study on these patients identified 41 unreported loci. Two loci with common variants and 39 loci with rare variants were identified in this study. This study identified common SNPs associated with both low GRS T1D and expression levels of the interferon-α-induced MNDA gene, indicating the role of viral infection in T1D. Interestingly, 16 of the 41 unreported loci have been linked to autism spectrum disorder (ASD) by previous studies, suggesting that genes residing at these loci may underlie both T1D and autism.

Indexed as

Genome-Wide Association StudyPolymorphism, Single NucleotideDiabetes Mellitus, Type 1EuropeFemaleGenetic LociGenetic Predisposition to DiseaseHumansMaleRisk Factors

Identifiers

PMID34302048
PMCPMC8302754
OpenAlexW3183809953

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.