Evidence map›Paper›PMID 37726640›Full record

SynthesisEndocrine2024

Clinical and genetic characteristics of CEL-MODY (MODY8): a literature review and screening in Chinese individuals diagnosed with early-onset type 2 diabetes.

Siyu Sun, Siqian Gong, Meng Li, Xirui Wang, Fang Wang, Xiaoling Cai, Wei Liu, Yingying Luo, Simin Zhang, Rui Zhang and 14 more

Abstract readSystematic Review
PubMed Publisher
In one paragraph

Synthesis in Endocrine, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.

0numbers the graph read from it
0cells of the map it votes in
12citing papers in PubMed
3.2field-weighted citation impact, top 8% 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

12 citing papers in PubMed, 10 citations in OpenAlex.

  1. Genetic basis of Asian diabetes.Journal of diabetes investigation · 2026
    Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Novel variation in theFrontiers in endocrinology · 2026
    Review
  7. Article
  8. RareBiomedicines · 2025
    Article
  9. Article
  10. Review
  11. Review
  12. 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

24 authors at 4 institutions in 1 country.

Siyu SunDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Siqian GongDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Meng LiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Xirui WangBeijing Airport Hospital, No. 49, Shuangyu Street, Beijing, 101318, China.
Fang WangCapital Medical University Beijing Tiantan Hospital, No. 119, Nansihuan West Street, Beijing, 100050, China.
Xiaoling CaiDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Wei LiuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Yingying LuoDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Simin ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Rui ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Lingli ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Yu ZhuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Yumin MaDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Qian RenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Xiuying ZhangDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Jing ChenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Ling ChenDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Jing WuDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Leili GaoDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Xianghai ZhouDepartment of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China.
Yufeng LiBeijing Pinggu Hospital, No. 59, Xinping North Street, Beijing, 101200, China.
Liyong ZhongCapital Medical University Beijing Tiantan Hospital, No. 119, Nansihuan West Street, Beijing, 100050, China.
Xueyao Han *Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China. xueyaohan@sina.com.
Linong Ji *Department of Endocrinology and Metabolism, Peking University People's Hospital, Peking University Diabetes Center, No. 11, Xizhimen South Street, Beijing, 100044, China. jiln@bjmu.edu.cn.ORCID 0000-0002-3262-2168
Peking University · CNCapital Medical University · CNAirport Shunyi District Hospital · CNBeijing Anding Hospital · CN

Funding

Beijing Municipal Science and Technology Commission Z141100007414002National High-tech Research and Development Program 2012AA02A509National Key R&D Program of China 2016YFC1304901
6 · The paper itself

Abstract

objectiveCEL-related maturity-onset diabetes of the young (CEL-MODY, MODY8) is a special type of monogenetic diabetes caused by mutations in the carboxyl-ester lipase (CEL) gene. This study aimed to summarize the genetic and clinical characteristics of CEL-MODY patients and to determine the prevalence of the disease among Chinese patients with early-onset type 2 diabetes (EOD).

methodsWe systematically reviewed the literature associated with CEL-MODY in PubMed, Embase, Web of Science, China National Knowledge Infrastructure and Wanfang Data to analyze the features of patients with CEL-MODY. We screened and evaluated rare variants of the CEL gene in a cohort of 679 Chinese patients with EOD to estimate the prevalence of CEL-MODY in China.

resultsIn total, 21 individuals reported in previous studies were diagnosed with CEL-MODY based on the combination of diabetes and pancreatic exocrine dysfunction as well as frameshift mutations in exon 11 of the CEL gene. CEL-MODY patients were nonobese and presented with exocrine pancreatic affection (e.g., chronic pancreatitis, low fecal elastase levels, pancreas atrophy and lipomatosis) followed by insulin-dependent diabetes. No carriers of CEL missense mutations were reported with exocrine pancreatic dysfunction. Sequencing of CEL in Chinese EOD patients led to the identification of the variant p.Val736Cysfs*22 in two patients. However, these patients could not be diagnosed with CEL-MODY because there were no signs that the exocrine pancreas was afflicted.

conclusionCEL-MODY is a very rare disease caused by frameshift mutations affecting the proximal VNTR segments of the CEL gene. Signs of exocrine pancreatic dysfunction provide diagnostic clues for CEL-MODY, and genetic testing is vital for proper diagnosis. Further research in larger cohorts is needed to investigate the characteristics and prevalence of CEL-MODY in the Chinese population.

Indexed as

Diabetes Mellitus, Type 2Pancreas, ExocrineCarboxylesteraseHumansMutationPancreasCarboxylesteraseCarboxyl-ester lipaseCEL-MODYDiabetes mellitusMODY8Pancreatic exocrine dysfunctionPrevalence

Identifiers

PMID37726640
OpenAlexW4386857283

What OpenQuestion holds

Textmetadata
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.