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BACKGROUND@#Maturity-onset diabetes of the young (MODY) is the most common monogenic diabetes. The aim of this study was to assess the prevalence of MODY in phenotypic type 2 diabetes (T2DM) among Chinese young adults.@*METHODS@#From April 2015 to October 2017, this cross-sectional study involved 2429 consecutive patients from 46 hospitals in China, newly diagnosed between 15 years and 45 years, with T2DM phenotype and negative for standardized glutamic acid decarboxylase antibody at the core laboratory. Sequencing using a custom monogenic diabetes gene panel was performed, and variants of 14 MODY genes were interpreted as per current guidelines.@*RESULTS@#The survey determined 18 patients having genetic variants causing MODY (6 HNF1A , 5 GCK , 3 HNF4A , 2 INS , 1 PDX1 , and 1 PAX4 ). The prevalence of MODY was 0.74% (95% confidence interval [CI]: 0.40-1.08%). The clinical characteristics of MODY patients were not specific, 72.2% (13/18) of them were diagnosed after 35 years, 47.1% (8/17) had metabolic syndrome, and only 38.9% (7/18) had a family history of diabetes. No significant difference in manifestations except for hemoglobin A1c levels was found between MODY and non-MODY patients.@*CONCLUSION@#The prevalence of MODY in young adults with phenotypic T2DM was 0.74%, among which HNF1A -, GCK -, and HNF4A -MODY were the most common subtypes. Clinical features played a limited role in the recognition of MODY.
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Humans , Diabetes Mellitus, Type 2/diagnosis , Cross-Sectional Studies , Mutation , Prevalence , PhenotypeABSTRACT
Globally, the epidemic of diabetes mellitus has brought a series of health and economic burden, and the prevalence of diabetes mellitus in China is also rising. In recent years, with more insight into the mechanisms of diabetes mellitus, early diagnosis, accurate classification and effective treatment using genetic testing has been gained increasing attention. This article discusses the genetic susceptibility or pathogenicity genes of diabetes, and summarizes the progress of gene diagnosis in different types of diabetes.
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Objective:To evaluate the association between NLRP2(NLR Family Pyrin Domain Containing 2) gene polymorphisms and classical type 1 diabetes mellitus(T1DM) in Chinese Han population.Methods:A case-control study was conducted in 510 classical T1DM patients from the Department of Metabolism and Endocrinology in the Second Xiangya Hospital affiliated to Central South University and 531 healthy controls in this region. The polymorphisms of rs1043673 in NLRP2 gene were analyzed by MassARRAY. Mann- Whitney U test and χ2 test were used to compare the differences between patients and controls. Logistic regression analysis and χ2 test were performed to compare the distributions of the alleles and genotypes between T1DM patients and controls. Kruskal- Wallis H test was used to compare the clinical characteristics of different genotypes in T1D patients. Results:The differences of the allele and genotype distributions in rs1043673 of NLRP2 gene were not significant between patients and controls. The polymorphisms of rs1043673 were associated with fasting C-peptide( P=0.029), postprandial 2-h C-peptide( P=0.017), and titer of GADA( P=0.043) in T1DM patients. Conclusion:The polymorphisms of NLRP2 gene were associated with the characteristics of T1DM patients.
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Objective@#To evaluate the association between NLRP2(NLR Family Pyrin Domain Containing 2) gene polymorphisms and classical type 1 diabetes mellitus(T1DM) in Chinese Han population.@*Methods@#A case-control study was conducted in 510 classical T1DM patients from the Department of Metabolism and Endocrinology in the Second Xiangya Hospital affiliated to Central South University and 531 healthy controls in this region. The polymorphisms of rs1043673 in NLRP2 gene were analyzed by MassARRAY. Mann-Whitney U test and χ2 test were used to compare the differences between patients and controls. Logistic regression analysis and χ2 test were performed to compare the distributions of the alleles and genotypes between T1DM patients and controls. Kruskal-Wallis H test was used to compare the clinical characteristics of different genotypes in T1D patients.@*Results@#The differences of the allele and genotype distributions in rs1043673 of NLRP2 gene were not significant between patients and controls. The polymorphisms of rs1043673 were associated with fasting C-peptide(P=0.029), postprandial 2-h C-peptide(P=0.017), and titer of GADA(P=0.043) in T1DM patients.@*Conclusion@#The polymorphisms of NLRP2 gene were associated with the characteristics of T1DM patients.
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Objective To investigate the microRNA ( miRNA ) expression level of peripheral blood mononuclear cell ( PBMC) in autoimmune diabetes mellitus ( ADM) which includes type 1 diabetes mellitus ( T1DM) and latent autoimmune diabetes in adults ( LADA ) , T2DM patients, and matched healthy individuals. Methods Patients of T1DM, LADA, and T2DM were recruited in the Second Xiangya Hospital of Central South University from January 2015 to December 2016. The subjects were divided into two groups. The first group was used for high-throughput screening of differentially expressed microRNAs. The second group was used to validate the expression of miR-142-5p and miR-143-3p by real-time quantitative polymerase chain reaction (RT-qPCR). Results (1)The different miRNA expression patterns of PBMC were found among T1DM patients, LADA patients, T2DM patients, and health individuals. ( 2) Compared with T2DM patients and healthy controls, LADA and T1DM patients had down-regulated PBMC miR-142-5p expression, and up-regulated miR-143-3p expression. (3)RT-qPCR validation showed that the expression of miR-142-5p in LADA patients was significantly lower than that in T2DM patients (0.30±0.24 vs 1.33 ± 1.29, P<0.05) . The expression of miR-143-3p in T1DM and LADA was higher than that in T2DM and health individuals. However, no significant differences were found. Conclusion The miRNA expression patterns are different in the PBMC of T1DM patients, LADA patients, T2DM patients, and healthy individuals; the abnormal expressions of miR-142-5p and miR-143-3p may participate in the development of ADM by affecting apoptosis and immune cell differentiation.