Evidence map›Paper›PMID 38157301›Full record

ArticleJournal of diabetes investigation2024

Identification of eight genomic protective alleles for mitochondrial diabetes by Kinship-graph convolutional network.

Jiahao Wang, Dandan Yan, Haoyue Cui, Rong Zhang, Xiaojing Ma, Luonan Chen, Cheng Hu, Jiarui Wu

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of diabetes investigation, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

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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

1 citing paper in PubMed.

  1. [The analysis of gene screening results for common hereditary hearing loss in 2 102 pregnant women in Dali area].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    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

8 authors.

Jiahao WangCAS Key Laboratory of Systems Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai, China.
Dandan YanShanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Centre for Diabetes, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Haoyue CuiSchool of Life Science and Technology, ShanghaiTech University, Shanghai, China.
Rong ZhangShanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Centre for Diabetes, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Xiaojing MaShanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Centre for Diabetes, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.
Luonan ChenCAS Key Laboratory of Systems Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai, China.
Cheng HuShanghai Key Laboratory of Diabetes Mellitus, Shanghai Clinical Centre for Diabetes, Shanghai Diabetes Institute, Shanghai Jiao Tong University Affiliated Sixth People's Hospital, Shanghai, China.ORCID https://orcid.org/0000-0003-4314-2386
Jiarui WuCAS Key Laboratory of Systems Biology, Center for Excellence in Molecular Cell Science, Chinese Academy of Sciences, Shanghai, China.ORCID https://orcid.org/0000-0002-3065-5599

Funding

Innovative Research Team of High-level Local University in Shanghai SHSMU-ZDCX20212700JST Moonshot R&D JPMJMS2021National Key R&D Program of China 2022YFA1004800National Natural Science Foundation of China 12131020National Natural Science Foundation of China 31930022Shanghai Research Center for Endocrine and Metabolic Diseases 2022ZZ01002The Shanghai Outstanding Academic Leaders 20XD1433300The Shuguang Project 21SG11the Strategic Priority Research Program of the Chinese Academy of Sciences (CAS) XDB38000000
6 · The paper itself

Abstract

aimsNearly 85% of maternally inherited diabetes and deafness (MIDD) are caused by the m.3243A>G mutation in the mitochondrial DNA. However, the clinical phenotypes of MIDD may also be influenced by the nuclear genome, this study aimed to investigate nuclear genome variants that influence clinical phenotypes associated with m.3243A>G mutation in MIDD based on whole-genome sequencing of the patients belonging to pedigrees. MATERIALS AND

methodsWe analyzed a whole-genome sequencing (WGS) dataset from blood samples of 38 MIDD patients with the m.3243A > G mutation belonging to 10 pedigrees, by developing a Kinship-graph convolutional network approach, called Ki-GCN, integrated with the conventional genome-wide association study (GWAS) methods.

resultsWe identified eight protective alleles in the nuclear genome that have protective effects against the onset of MIDD, related deafness, and also type 2 diabetes. Based on these eight protective alleles, we constructed an effective logistic regression model to predict the early or late onset of MIDD patients.

conclusionsThere are protective alleles in the nuclear genome that are associated with the onset-age of MIDD patients and might also provide protective effects on the deafness derived from MIDD patients.

Indexed as

DeafnessDiabetes Mellitus, Type 2AllelesDNA, MitochondrialGenome-Wide Association StudyGenomicsHumansMitochondrial DiseasesDNA, MitochondrialGenetics and pathogenesisMachine learningMaternally inherited diabetes and deafness

Identifiers

PMID38157301
PMCPMC10759726

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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.