학술논문
The Rare and Atypical Diabetes Network (RADIANT) Study: Design and Early Results.
Document Type
Article
Author
RADIANT Study Group; Balasubramanyam, Ashok; Redondo, Maria J.; Craigen, William; Dai, Hongzheng; Davis, Ansley; Desai, Dimpi; Dussan, Monica; Faruqi, Jordana; Gaba, Ruchi; Gonzalez, Iliana; Jhangiani, Shalini; Kubota-Mishra, Elizabeth; Liu, Pengfei; Murdock, David; Posey, Jennifer; Ram, Nalini; Sabo, Aniko; Sisley, Stephanie; Tosur, Mustafa
Source
Subject
Language
ISSN
0149-5992
Abstract
OBJECTIVE: The Rare and Atypical Diabetes Network (RADIANT) will perform a study of individuals and, if deemed informative, a study of their family members with uncharacterized forms of diabetes. RESEARCH DESIGN AND METHODS: The protocol includes genomic (whole-genome [WGS], RNA, and mitochondrial sequencing), phenotypic (vital signs, biometric measurements, questionnaires, and photography), metabolomics, and metabolic assessments. RESULTS: Among 122 with WGS results of 878 enrolled individuals, a likely pathogenic variant in a known diabetes monogenic gene was found in 3 (2.5%), and six new monogenic variants have been identified in the SMAD5, PTPMT1, INS, NFKB1, IGF1R, and PAX6 genes. Frequent phenotypic clusters are lean type 2 diabetes, autoantibody-negative and insulin-deficient diabetes, lipodystrophic diabetes, and new forms of possible monogenic or oligogenic diabetes. CONCLUSIONS: The analyses will lead to improved means of atypical diabetes identification. Genetic sequencing can identify new variants, and metabolomics and transcriptomics analysis can identify novel mechanisms and biomarkers for atypical disease. [ABSTRACT FROM AUTHOR]