Version 1
: Received: 30 March 2024 / Approved: 1 April 2024 / Online: 1 April 2024 (15:02:41 CEST)
How to cite:
Zohud, O.; Midlej, K.; Lone, I.M.; Nashef, A.; Abu El-naaj, I.; IRAQI, F.A. Studying the Effect of Host Genetic Background of Juvenile Polyposis Development using Collaborative Cross and Smad4 Knock-out Mouse Models. Preprints2024, 2024040103. https://doi.org/10.20944/preprints202404.0103.v1
Zohud, O.; Midlej, K.; Lone, I.M.; Nashef, A.; Abu El-naaj, I.; IRAQI, F.A. Studying the Effect of Host Genetic Background of Juvenile Polyposis Development using Collaborative Cross and Smad4 Knock-out Mouse Models. Preprints 2024, 2024040103. https://doi.org/10.20944/preprints202404.0103.v1
Zohud, O.; Midlej, K.; Lone, I.M.; Nashef, A.; Abu El-naaj, I.; IRAQI, F.A. Studying the Effect of Host Genetic Background of Juvenile Polyposis Development using Collaborative Cross and Smad4 Knock-out Mouse Models. Preprints2024, 2024040103. https://doi.org/10.20944/preprints202404.0103.v1
APA Style
Zohud, O., Midlej, K., Lone, I.M., Nashef, A., Abu El-naaj, I., & IRAQI, F.A. (2024). Studying the Effect of Host Genetic Background of Juvenile Polyposis Development using Collaborative Cross and Smad4 Knock-out Mouse Models. Preprints. https://doi.org/10.20944/preprints202404.0103.v1
Chicago/Turabian Style
Zohud, O., Imad Abu El-naaj and FUAD A. IRAQI. 2024 "Studying the Effect of Host Genetic Background of Juvenile Polyposis Development using Collaborative Cross and Smad4 Knock-out Mouse Models" Preprints. https://doi.org/10.20944/preprints202404.0103.v1
Abstract
Juvenile Polyposis Syndrome (JPS) is a rare autosomal dominant disorder characterized by multiple juvenile polyps in the gastrointestinal tract, often associated with mutations in genes such as Smad4 and BMPR1A. This study explores the impact of Smad4 knockout on the development of intestinal polyps using Collaborative Cross (CC) mice, a genetically diverse model. Our results reveal a significant increase in intestinal polyps in Smad4 knockout mice across the entire population, emphasizing the broad influence of Smad4 on polyposis. Sex-specific analyses demonstrate higher polyp counts in knockout males and females compared to their WT counterparts, with distinct correlation patterns. Line-specific effects highlight the nuanced response to Smad4 knockout, underscoring the importance of genetic variability. Multimorbidity heat maps offer insights into complex relationships between polyp counts, locations, and sizes. Heritability analysis reveals a significant genetic basis for polyp counts and sizes, while machine learning models, including k-Nearest Neighbours and Linear Regression, identify key predictors, enhancing our understanding of juvenile polyposis genetics. Overall, this study provides a comprehensive understanding of the intricate genetic interplay in the context of Smad4 knockout, offering valuable insights into potential therapeutic targets for juvenile polyposis and related diseases.
Medicine and Pharmacology, Oncology and Oncogenics
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
