ArticleBMJ open diabetes research & care2022
Co-segregation analysis and functional trial in vivo of candidate genes for monogenic diabetes.
Article in BMJ open diabetes research & care, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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Who cites it
2 citing papers in PubMed, 5 citations in OpenAlex.
- Monogenic diabetes: An evidence-based clinical approach.World journal of diabetes · 2025Review
- shinyseg: a web application for flexible cosegregation and sensitivity analysis.Bioinformatics (Oxford, England) · 2024Article
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Authors and funding
5 authors at 2 institutions in 2 countries.
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Abstract
introductionThe aim of this study was to perform familial co-segregation analysis and functional trial in vivo during mixed meal tolerance test (MMTT) of novel variants in diabetes candidate genes. RESEARCH DESIGN AND
methodsIt is a continuation of the project "Genetic diabetes in Lithuania" with the cohort of 1209 patients with diabetes. Prior screening for autoimmune markers confirmed type 1 diabetes (T1D) diagnosis in 88.1% (n=1065) of patients, and targeted next-generation sequencing identified 3.5% (n=42) pathogenic variants in MODY genes. Subsequently, 102 patients were classified as having diabetes of unknown etiology. 12/102 were found to have novel variants in potential diabetes genes (
resultsMMTT analysis showed that probands with variants in
conclusionsFunctional beta-cell study in vivo allowed to select five most probable genes for monogenic diabetes. Familial co-segregation analysis showed that novel variant in
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