Evidence map›Paper›PMID 40148250›Full record

ReviewJournal of diabetes2025

Prevalence and Clinical Characteristics of NEUROD1-MODY in Chinese Early-Onset Type 2 Diabetes Mellitus and a Literature Review.

Tianhao Ba, Qian Ren, Siqian Gong, Meng Li, Hong Lian, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang and 12 more

Abstract readReview
In one paragraph

Review in Journal of diabetes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

22 authors.

Tianhao BaDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0002-2416-7839
Qian RenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0001-5729-8264
Siqian GongDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Meng LiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0003-3908-4830
Hong LianDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xiaoling CaiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Wei LiuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0002-7613-3163
Yingying LuoDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Simin ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Rui ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0001-6005-8245
Lingli ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Yu ZhuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xiuying ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Jing ChenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Jing WuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Xianghai ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.
Yufeng LiBeijing Pinggu Hospital, Beijing, China.ORCID https://orcid.org/0000-0003-3403-9539
Xirui WangBeijing Airport Hospital, Beijing, China.
Fang WangBeijing Tiantan Hospital, Capital Medical University, Beijing, China.
Liyong ZhongBeijing Tiantan Hospital, Capital Medical University, Beijing, China.
Xueyao HanDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0002-2387-4937
Linong JiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, Beijing, China.ORCID https://orcid.org/0000-0002-3262-2168

Funding

Beijing Municipal Science and Technology Commission, Adminitrative Commission of Zhongguancun Science Park D131100005313008Beijing Municipal Science and Technology Commission, Adminitrative Commission of Zhongguancun Science Park Z141100007414002Beijing Municipal Science and Technology Commission, Adminitrative Commission of Zhongguancun Science Park Z201100005520012National Key Research and Development Program of China 2016YFC1304901
6 · The paper itself

Abstract

backgroundMaturity-onset diabetes of the young resulting from mutations of the NEUROD1 gene (NEUROD1-MODY) is a rare form of diabetes and has not been well studied. We aimed to estimate its prevalence in Chinese patients with early-onset type 2 diabetes mellitus (EOD) and summarize its clinical and genetic characteristics.

methodsWe performed next-generation sequencing in 679 patients with EOD to screen rare variants in NEUROD1 exons and evaluated the effects of variants using in vitro experiments. All the reported NEUROD1-MODY cases were reviewed. Patients carrying pathogenic or likely pathogenic variants were diagnosed with NEUROD1-MODY according to the American College of Medical Genetics and Genomics guidelines.

resultsFour rare variants were identified in 679 patients with EOD, but only P197H decreased the transcriptional activity in in vitro functional assays to an extent comparable to the well-known mutation causing NEUROD1-MODY. Its frequency was pretty higher in the European population (0.024) than that in the East Asian population (0.00034) according to the gnomAD database. Twenty-eight previously reported patients could be confirmed as diagnosed. The patients in Asia had a lower body mass index and a higher rate of ketosis compared with Caucasians, and the mutations present in Asia often occurred in the transactivation domain. Neurological abnormalities were observed in 10.7% of the patients with NEUROD1-MODY.

conclusionsNEUROD1-MODY in Chinese patients with EOD is not common (≤ 0.15%). The P197H might account for MODY in Chinese with a higher penetrance than Caucasian and needs further exploration. The possible differences of phenotypes exist between the two ethnic populations.

Indexed as

Basic Helix-Loop-Helix ProteinsDiabetes Mellitus, Type 2AdultAge of OnsetChinaEast Asian PeopleFemaleHumansMaleMiddle AgedMutationPrevalenceBasic Helix-Loop-Helix ProteinsNEUROD1 protein, humanearly‐onset type 2 diabetes mellitusMODY6NEUROD1‐MODY

Identifiers

PMID40148250
PMCPMC11949730

What Socratic holds

Textmetadata
LicenceCC BY
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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.