Dataset Information

Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China.

ABSTRACT:

Purpose

Early-onset, multigenerational diabetes is a heterogeneous disease, which is often simplistically classified as type 1 diabetes (T1D) or type 2 diabetes(T2D). However, its clinical and genetic characteristics have not been clearly elucidated. The aim of our study is to investigate the clinical features of early-onset diabetes involving three consecutive generations (eDia3) in a Chinese diabetes cohort.

Methods

Of 6470 type 2 diabetic patients, 105 were identified as eDia3 (1.6%). After a case-control match on age, we compared the clinical characteristics of 89 eDia3 patients with 89 early-onset T2D patients without a family history of diabetes (eDia0). WES was carried out in 89 patients with eDia3. We primarily focused on 14 known maturity-onset diabetes of the young (MODY) genes. Variants were predicted by ten tools (SIFT, PolyPhen2_HDIV, PolyPhen2_HVAR, LRT, Mutation Assessor, Mutation Taster, FATHMM, GERP++, PhyloP, and PhastCons). All suspected variants were then validated by Sanger sequencing and further investigated in the proband families.

Results

Compared to age-matched eDia0, eDia3 patients had a younger age at diagnosis (26.5 ± 5.8 vs. 29.4 ± 5.3 years, P = 0.001), lower body mass index (25.5 ± 3.9 vs. 27.4 ± 4.6 kg/m², P = 0.003), lower systolic blood pressure (120 ± 15 vs. 128 ± 18 mmHg, P = 0.003), and better metabolic profiles (including glucose and lipids). Of the 89 eDia3 patients, 10 (11.2%) carried likely pathogenic variants in genes (KLF11, GCK, ABCC8, PAX4, BLK and HNF1A) of MODY.

Conclusions

eDia3 patients had unique clinical features. Known MODY genes were not common causes in these patients.

SUBMITTER: Wang DW

PROVIDER: S-EPMC9474578 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Publications

Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China.

Wang Da-Wei DW Yuan Jing J Yang Fang-Yuan FY Qiu Hai-Yan HY Lu Jing J Yang Jin-Kui JK

Endocrine 20220803 1

<h4>Purpose</h4>Early-onset, multigenerational diabetes is a heterogeneous disease, which is often simplistically classified as type 1 diabetes (T1D) or type 2 diabetes(T2D). However, its clinical and genetic characteristics have not been clearly elucidated. The aim of our study is to investigate the clinical features of early-onset diabetes involving three consecutive generations (eDia3) in a Chinese diabetes cohort.<h4>Methods</h4>Of 6470 type 2 diabetic patients, 105 were identified as eDia3 ...[more]

PMID: 35921062

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Dataset Information

Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China.

Purpose

Methods

Results

Conclusions

Publications

Early-onset diabetes involving three consecutive generations had different clinical features from age-matched type 2 diabetes without a family history in China.

Similar Datasets

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