From Monogenic Myths to Multigene Facts: Exploring Variable Inheritance and the Emergence of Digenic/Oligogenic Models in Human Diseases
Kitapta bölümler > Diğer · 2025
Yazarlar: Shahzad, Haseeba, Mubashir, Fizza, Irshad, Saba, Naeem, Muhammad Faheem, Hussain, Shah, Gulzar, Sana, Rana, Laraib, Akram, Amna, Gunay, Busra, Fayyaz, Humaira, Shoaib, Amer, Muzaffar, Khadija, Atif, Maha, Nawaz, Aqsa, Liaqat, Ayesha, Karamat, Raafia, Saeed, Saba
Zenodo (CERN European Organization for Nuclear Research), Diğer, European Organization for Nuclear Research, B, Uluslararası, 2025, ,
Özet
The conventional "one gene–one disease" template has shaped our understanding of human genetics. Still, cumulative evidence reveals that this approach is too simplistic for verifying the entire spectrum of clinical phenotypes. It has been examined that presumed monogenic disorders often exhibit variable expressivity, incomplete penetrance, and inexplicable diagnostic gaps, the challenges that accentuate the impact of modifiers, genetic background, and additional molecular contributors. Therefore, modern genomics has switched towards multi-gene models, underscoring the mechanistic underpinnings of digenic/oligogenic inheritance. These patterns reveal the interplay of interacting proteins, pathways, polygenic load, and buffering capacity that collaboratively determine disease onset and severity. This switching clinically redefines genetic counseling, diagnostic strategies, and the ethical outlook of genomic medicine, requiring consolidation of progressive functional and bioinformatic interpretation tools. With the evolution of precision medicine, the embracement of genetic complexity is not only a scientific necessity but a clinical imperative. Shortly, the omics era is one of nuanced gene–gene interactions, interconnected networks, and redefined therapeutic horizons.