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MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

ABSTRACT: Aims:Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients with MODY2 in Asia have delayed timely treatment because they did not receive the correct diagnosis. This study aims to analyze the clinical characteristics and GCK mutations in Asian MODY2. Methods:We have collected 110 Asian patients with MODY2 from the PubMed, Embase, Medline, Web of Science, CNKI, and Wanfang with the following search terms: 'maturity-onset diabetes of the young' OR 'MODY' OR 'maturity-onset diabetes of the young type 2' OR 'MODY2' OR 'GCK-DM' OR 'GCK-MODY'. Both mutations of GCK and clinical characteristics of MODY2 were analyzed. Results:There were 96 different mutations that occurred in coding regions and non-coding regions. Exon 5 and 7 were the most common location in coding regions and missense was the primary mutation type. The proportion of probands younger than 25 was 81.8%, and 81.4% of the probands had family history of hyperglycaemia. Ninety percent and 93% of Asian MODY2 probands exhibited mild elevation in FPG (5.4-8.3 mmol/L) and HbA1c (5.6-7.6%), respectively. Conclusions:In most Asian patients, MODY2 occurred due to GCK mutation in coding regions, and exon 5 and 7 were the most common locations. FPG, HbA1c, and familial diabetes were important reference indicators for diagnosing MODY2. Altogether, the study indicates that for the young onset of diabetes with mild elevated blood glucose and HbA1c and family history of hyperglycaemia, molecular genetic testing is suggested in order to differentiate MODY2 from other types of diabetes earlier.

SUBMITTER: Zhou Y

PROVIDER: S-EPMC7274558 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Zhou Yuan Y Wang ShengNan S Wu Jing J Dong JianJun J Liao Lin L

Endocrine connections 20200501 5

<h4>Aims</h4>Heterozygous inactivating mutations in the GCK gene cause the familial, mild fasting hyperglycaemia named MODY2. Many patients with MODY2 in Asia have delayed timely treatment because they did not receive the correct diagnosis. This study aims to analyze the clinical characteristics and GCK mutations in Asian MODY2.<h4>Methods</h4>We have collected 110 Asian patients with MODY2 from the PubMed, Embase, Medline, Web of Science, CNKI, and Wanfang with the following search terms: 'matu ...[more]

PMID: 32375122

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Project description:IntroductionAccurate diagnosis of maturity-onset diabetes of the young (MODY) is required in order to select appropriate treatment options and to assess prognosis. The aim of this study was to explore potential clinical indicators that could be used to differentiate MODY2, MODY3, and type 1 diabetes (T1D) in young subjects.MethodsTwelve patients with MODY3 and 29 patients with MODY2 were characterized and compared to 26 patients with T1D. These three groups were matched for age and gender. Clinical profiles of the 67 patients were collected. Receiver operating characteristic (ROC) curves were used to identify the optimal cutoff values of clinical indicators.ResultsCompared to patients with T1D, subjects with MODY3 had higher fasting C-peptide levels (1.34 ± 1.51 vs. 0.29 ± 0.22 ng/mL; P < 0.001) and lower high-sensitivity C-reactive protein (hsCRP) levels (0.18 ± 0.15 vs. 1.22 ± 1.49 mg/L, P = 0.004); patients with MODY2 had lower hsCRP (0.37 ± 0.39 vs. 1.22 ± 1.49 mg/L; P = 0.003), total cholesterol (4.12 ± 0.68 vs. 4.61 ± 0.81 mmol/L, P = 0.034), and low-density lipoprotein cholesterol (LDL-C) (2.24 ± 0.68 vs. 2.67 ± 0.79 ng/L, P = 0.002) levels and higher fasting C-peptide levels (0.96 ± 0.42 vs. 0.29 ± 0.22 ng/mL, P = 0.002). The ROC-derived hsCRP values for discriminating MODY2 from T1D, MODY3 from T1D, and MODY3 from MODY2 were 0.675, 0.833, and 0.763, respectively. The ROC-derived fasting C-peptide levels for discriminating MODY2 from T1D and MODY3 from T1D were 0.951 and 0.975, respectively. The ROC-derived total cholesterol and LDL-C values for discriminating MODY2 from T1D were 0.670 and 0.662, respectively; the ROC-derived triglyceride value for discriminating MODY3 from MODY2 was 0.756. Additionally, a combination of indicators permitted better discrimination of MODY subtypes than any single parameter.ConclusionOur findings suggest that fasting C-peptide, hsCRP, and lipid levels permit good discrimination among MODY2, MODY3, and T1D. These clinical indicators could be used as markers of MODY2 and MODY3 in young patients with diabetes.

Dataset Information

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

Publications

MODY2 in Asia: analysis of GCK mutations and clinical characteristics.

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