The association between hepatocyte nuclear factor 1A gene mutations and phenotypes of congenital hyperinsulinism and diabetes
10.3969/j.issn.1006-6187.2025.06.002
- VernacularTitle:肝细胞核因子1A基因突变与先天性高胰岛素血症及糖尿病表型相关性的研究
- Author:
Chaochao YANG
1
;
Meng LI
1
;
Linong JI
1
;
Xueyao HAN
1
Author Information
1. 100044 北京大学人民医院内分泌科
- Publication Type:Journal Article
- Keywords:
Hepatocyte nuclear factor 1A gene;
Maturity-onset diabetes of the young;
Hyperinsulinism;
C-reactive protein
- From:
Chinese Journal of Diabetes
2025;33(6):406-413
- CountryChina
- Language:Chinese
-
Abstract:
Objective To explore the relationship between hepatocyte nuclear factor 1A(HNF1A)-associated congenital hyperinsulinism(CHI),HNF1A-maturity-onset diabetes of the young(MODY)and C-reactive protein(C-RP)levels.Methods PubMed,CNKI and Wanfang Data were searched for literature on HNF1A gene mutation published from inception to December 2023,and the genetic and clinical information of HNF1A mutation-related CHI and HNF1A-MODY were extracted.According to the clinical phenotypes,the HNF1A mutation sites included in the literature were divided into the Biphenotypic mutations(Biphenotypic,n=84)group and the DM phenotype-associated mutations(DM,n=378)group.The levels of C-RP and C-P were collected and compared in patients with HNF1A-MODY and T2DM by meta-analysis.Results A total of 9 articles about HNF1A mutation-related CHI were included,and 19 mutation sites were found to be associated with CHI.A total of 143 articles related to HNF1A-MODY were included,and 589 mutation sites were found to be associated with HNF1A-MODY.The age at diagnosis and 2 hPG were significantly lower in the Biphenotypic group than in the DM group(P<0.05).A total of 11 articles were included in the meta-analysis.Compared with T2DM patients,HNF1A-MODY patients had lower C-RP(MD-1.61,95%CI-1.96～-1.26,P<0.05)and lower C-P(MD-0.95,95%CI-1.87～-0.03,P<0.05).Conclusions CHI is an important clinical feature of HNF1A-MODY,and hyperinsulinemia may exist before the decline of islet β cell function.
