High incidence and geographic distribution of cleft palate cases in Finland are associated with a regulatory variant in IRF6
Fedik Rahimov, Pekka Nieminen, Priyanka Kumari, Emma Juuri, Tiit Nikopensius, Kitt D. Paraiso, Jakob German, Antti Karvanen, Mart Kals, Abdelrahman G. Elnahas, Juha M Karjalainen, Mitja Kurki, Aarno V. Palotie, Arja Heliövaara, Tõnu Esko, , David P. C. Rice
The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.
medRxiv · Jul 9, 2024 · PreprintGenetic & Genomic Medicine