Diabetes & Metabolism Journal

Original Article

Genetics
Exon Sequencing of HNF1β in Chinese Patients with Early-Onset Diabetes: Siqian Gong, Hong Lian, Yating Li, Xiaoling Cai, Wei Liu, Yingying Luo, Meng Li, Si-min Zhang, Rui Zhang, Lingli Zhou, Yu Zhu, Qian Ren, Xiuying Zhang, Jing Chen, Jing Wu, Xianghai Zhou, Xirui Wang, Xueyao Han, Linong Ji; Diabetes Metab J. 2025;49(2):321-330. Published online November 13, 2024; DOI: https://doi.org/10.4093/dmj.2024.0159

1,277 View
116 Download
1 Web of Science
1 Crossref

Abstract PDF Supplementary Material PubReader ePub

Background
Maturity-onset diabetes of the young (MODY) due to variants of hepatocyte nuclear factor 1-beta (HNF1β) (MODY5) has not been well studied in the Chinese population. This study aimed to estimate its prevalence and evaluate the application of a clinical screening method (Faguer score) in Chinese early-onset diabetes (EOD) patients.
Methods
Among 679 EOD patients clinically diagnosed with type 2 diabetes mellitus (age at diagnosis ≤40 years), the exons of HNF1β were sequenced. Functional impact of rare variants was evaluated using a dual-luciferase reporter system. Faguer scores ≥8 prompted multiplex ligation-dependent probe amplification (MLPA) for large deletions. Pathogenicity of HNF1β variants was assessed following the American College of Medical Genetics and Genomics (ACMG) guidelines.
Results
Two rare HNF1β missense mutations (E105K and G454R) were identified by sequencing in five patients, showing functional impact in vitro. Another patient was found to have a whole-gene deletion by MLPA in 22 patients with the Faguer score above 8. Following ACMG guidelines, six patients carrying pathogenic or likely pathogenic variant were diagnosed with MODY5. The estimated prevalence of MODY5 in Chinese EOD patients was approximately 0.9% or higher.
Conclusion
MODY5 is not uncommon in China. The Faguer score is helpful in deciding whether to perform MLPA analysis on patients with negative sequencing results.

Citations

Citations to this article as recorded by

Diabetes associated with HNF1B: beyond Occam’s razor—A case report
Carolina Sager-La Ganga, Clara Solà, Karen Castillo, Carme Figueredo, Ignacio Conget
Acta Diabetologica.2025;[Epub] CrossRef

Review

Type 1 Diabetes
Non-Insulin Antidiabetes Treatment in Type 1 Diabetes Mellitus: A Systematic Review and Meta-Analysis: Xiaoling Cai, Chu Lin, Wenjia Yang, Lin Nie, Linong Ji; Diabetes Metab J. 2021;45(3):312-325. Published online March 15, 2021; DOI: https://doi.org/10.4093/dmj.2020.0171

7,931 View
314 Download
8 Web of Science
6 Crossref

Graphical Abstract Abstract PDF Supplementary Material PubReader ePub

In order to evaluate the efficacy and side effects of the non-insulin antidiabetes medications as an adjunct treatment in type 1 diabetes mellitus (T1DM), we conducted systematic searches in MEDLINE, Embase, and the Cochrane Central Register of Controlled Trials for randomized controlled trials published between the date of inception and March 2020 to produce a systematic review and meta-analysis. Overall, 57 studies were included. Compared with placebo, antidiabetes agents in adjunct to insulin treatment resulted in significant reduction in glycosylated hemoglobin (weighted mean difference [WMD], –0.30%; 95% confidence interval [CI], –0.34 to –0.25%; P<0.01) and body weight (WMD, –2.15 kg; 95% CI, –2.77 to –1.53 kg; P<0.01), and required a significantly lower dosage of insulin (WMD, –5.17 unit/day; 95% CI, –6.77 to –3.57 unit/day; P<0.01). Compared with placebo, antidiabetes agents in adjunct to insulin treatment increased the risk of hypoglycemia (relative risk [RR], 1.04; 95% CI, 1.01 to 1.08; P=0.02) and gastrointestinal side effects (RR, 1.99; 95% CI, 1.61 to 2.46; P<0.01) in patients with T1DM. Compared with placebo, the use of non-insulin antidiabetes agents in addition to insulin could lead to glycemic improvement, weight control and lower insulin dosage, while they might be associated with increased risks of hypoglycemia and gastrointestinal side effects in patients with T1DM.

Citations

Citations to this article as recorded by

Glycemic Management Across the Lifespan for People With Type 1 Diabetes: A Clinical Practice Guideline
Ilana J. Halperin, Brandy Wicklow, Shazhan Amed, Alanna Chambers, Charlotte Courage, Elizabeth Cummings, Patricia Kirkland, Dylan MacKay, Meranda Nakhla, Zubin Punthakee, Paul M. Ryan, Lindsay Sawatsky, Peter A. Senior, Bikrampal S. Sidhu, Alanna Weisman
Canadian Journal of Diabetes.2025; 49(1): 5. CrossRef
Prescribing patterns of adjunctive therapy for the treatment of type 1 diabetes mellitus among Australian endocrinologists
Patrice Forner, Jennifer Snaith, Jerry R. Greenfield
Internal Medicine Journal.2024; 54(5): 779. CrossRef
Dioscin: Therapeutic potential for diabetes and complications
Haoyang Gao, Ze Wang, Danlin Zhu, Linlin Zhao, Weihua Xiao
Biomedicine & Pharmacotherapy.2024; 170: 116051. CrossRef
The Impact of Body Mass Index, Residual Beta Cell Function and Estimated Glucose Disposal Rate on the Development of Double Diabetes and Microvascular Complications in Patients With Type 1 Diabetes Mellitus
Rameez Raja Bhagadurshah, Subbiah Eagappan, Raghavan Kasthuri Santharam, Sridhar Subbiah
Cureus.2023;[Epub] CrossRef
Type 1 diabetes glycemic management: Insulin therapy, glucose monitoring, and automation
Bruce A. Perkins, Jennifer L. Sherr, Chantal Mathieu
Science.2021; 373(6554): 522. CrossRef
Current Advances of Artificial Pancreas Systems: A Comprehensive Review of the Clinical Evidence
Sun Joon Moon, Inha Jung, Cheol-Young Park
Diabetes & Metabolism Journal.2021; 45(6): 813. CrossRef

First
Prev
Page of 1
Next
Last

Search