Genome‐Wide Association Study Identifies a Locus at 17p13 to Be Associated With Intestinal Malrotation
We report results from the first GWAS on intestinal malrotation. A locus at 17p13 is associated with intestinal malrotation and may guide genetic guidance and improve our understanding of this malformation. Rs72631499 was found to be a binding site for HNF4A, a transcription factor that plays important roles in normal embryonic gut development.
Authors
- Haytham M.A. Kaafarani (ORCID: https://orcid.org/0000-0002-4682-9135)
- Kerry Breen (ORCID: https://orcid.org/0000-0002-1177-3493)
- Maha Reda Farhat (ORCID: https://orcid.org/0000-0002-3871-5760)
- Mathias A. Christensen (ORCID: https://orcid.org/0000-0001-7438-8114)
- Ander Dorken‐Gallastegi (ORCID: https://orcid.org/0000-0003-3566-5937)
- Apostolos Gaitanidis (ORCID: https://orcid.org/0000-0003-3045-5252)
- George C. Velmahos (ORCID: https://orcid.org/0000-0001-5459-0374)
Institutions
- Harvard University (US)
- Copenhagen University Hospital (DK)
- Rigshospitalet (DK)
- Massachusetts General Hospital (US)
Publication Details
- Journal
- World Journal of Surgery
- Published
- 2025-04-08
- DOI
- https://doi.org/10.1002/wjs.12575
- Primary Topic
- Intestinal Malrotation and Obstruction Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00