Evidence map›Paper›PMID 38862513›Full record

ArticleScientific reports2024

Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes.

Anni A Antikainen, Jani K Haukka, Anmol Kumar, Anna Syreeni, Stefanie Hägg-Holmberg, Anni Ylinen, Elina Kilpeläinen, Anastasia Kytölä, Aarno Palotie, Jukka Putaala and 5 more

Abstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing 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

4 citing papers in PubMed.

  1. Article
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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

15 authors.

Anni A AntikainenFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Jani K HaukkaFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Anmol KumarFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Anna SyreeniFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Stefanie Hägg-HolmbergFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Anni YlinenFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Elina KilpeläinenInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Anastasia KytöläInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Aarno PalotieInstitute for Molecular Medicine Finland (FIMM), HiLIFE, University of Helsinki, Helsinki, Finland.
Jukka PutaalaNeurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland.
Lena M ThornFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Valma HarjutsaloFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland.
Per-Henrik GroopFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland. per-henrik.groop@helsinki.fi.
Niina SandholmFolkhälsan Institute of Genetics, Folkhälsan Research Center, Helsinki, Finland. niina.sandholm@helsinki.fi.
FinnDiane Study Group

Funding

Academy of Finland 299200Academy of Finland 316664Helsinki University Central Hospital Research Funds TYH2018207Novo Nordisk Fonden NNF23OC0082732Novo Nordisk Foundation NNFOC0013659Wellcome Trust 220027
6 · The paper itself

Abstract

Individuals with type 1 diabetes (T1D) carry a markedly increased risk of stroke, with distinct clinical and neuroimaging characteristics as compared to those without diabetes. Using whole-exome or whole-genome sequencing of 1,051 individuals with T1D, we aimed to find rare and low-frequency genomic variants associated with stroke in T1D. We analysed the genome comprehensively with single-variant analyses, gene aggregate analyses, and aggregate analyses on genomic windows, enhancers and promoters. In addition, we attempted replication in T1D using a genome-wide association study (N = 3,945) and direct genotyping (N = 3,263), and in the general population from the large-scale population-wide FinnGen project and UK Biobank summary statistics. We identified a rare missense variant on SREBF1 exome-wide significantly associated with stroke (rs114001633, p.Pro227Leu, p-value = 7.30 × 10

Indexed as

AnkyrinsDiabetes Mellitus, Type 1Genetic Predisposition to DiseaseGenome-Wide Association StudyStrokeWhole Genome SequencingAdultFemaleHumansHyaluronan SynthasesMaleMembrane ProteinsMiddle AgedNerve Tissue ProteinsPolymorphism, Single NucleotideRegulatory Sequences, Nucleic AcidANK1 protein, humanAnkyrinsHAS1 protein, humanHyaluronan SynthasesLRRN1 protein, humanMembrane ProteinsNerve Tissue Proteins

Identifiers

PMID38862513
PMCPMC11166668

What Socratic holds

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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 Socratic graph.