Genome-wide linkage and association of novel genes and pathways with type 2 diabetes in Italian families

Autor: Mutaz Amin, Claudia Gragnoli
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: Aspects of Molecular Medicine, Vol 4, Iss , Pp 100046- (2024)
Druh dokumentu: article
ISSN: 2949-6888
DOI: 10.1016/j.amolm.2024.100046
Popis: Background: Type 2 diabetes mellitus (T2D) stands as one of the most prevalent chronic diseases globally, posing substantial health and economic burdens on society. Within the spectrum of T2D, familial cases emerge as a distinct entity characterized by a strong familial clustering of the disease. This phenomenon has long suggested that genetics contributes substantially to T2D susceptibility, motivating extensive research into the genetic determinants of familial T2D. Methods: We recruited 212 multigenerational Italian families with multiple cases of T2D. The families were genotyped using genomic array (≥ 600k) derived from the UK Biobank Axiom Array platform. Informative markers were tested via Pseudomarker for linkage to and linkage disequilibrium (i.e., linkage joint to association) with T2D across the following models: dominant with complete penetrance (D1), dominant with incomplete penetrance (D2), recessive with complete penetrance (R1), and recessive with incomplete penetrance (R2). Results: We identified a total of 566 variants reaching genome-wide significant (P
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