Exome Sequencing of a Type 1 Diabetes Mellitus Family Exposes Both Common and Individualized Rare Variants Contributing to Pathogenesis.

ABSTRACT: Type 1 diabetes mellitus (T1D) is a disease of complex inheritance where genetic, immunological, and environmental factors interact in rendering the ultimate phenotype. To gain insights into the molecular etiology of the disease in a subset of a population that is sparsely investigated in genetic terms, like in Africa, exome sequence data from a T1D multicase family and a T1D cohort were investigated. The exome analysis identified several candidate genes related to T1D, like human leukocyte antigen (HLA), insulin (INS) gene, Cytotoxic T-lymphocyte-Associated Protein 4 (CTLA4), Protein Tyrosine Phosphatase Nonreceptor Type 22 (PTPN22), and Interferon-Induced Helicase C Domain 1 (IFIH1). A total of eight pathways were significantly overrepresented (p value ≤ 0.05) in target lists anal

SUBMITTER: Ibrahim TAM 

PROVIDER: S-EPMC12688644 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature