PKHD1L1 affects fertility in women
Emmi Kapiainen, Minna K. Karjalainen, Petar B. Petrov, Riikka K. Arffman, Ulla Saarela, Sydney E. Parks, FinnGen, Eirini Trichia, Diego J. Aguilar-Ramirez, Lena Luyckx, Milena Myllykangas, Jason Torres, Jaime Berumen-Campos, Jesús Alegre-Díaz, Pablo Antonio Kuri-Morales, , Renata Prunskaite‐Hyyryläinen
The paper investigates the effect of the PKHD1L1 splice donor variant rs17368310 on female fertility, showing reduced child count in homozygous carriers across Finnish and Mexican populations.
medRxiv · Aug 24, 2026 · PreprintGenetic & Genomic Medicine