Desiré Casares-Marfil, Manuel Martínez-Bueno, Maria Orietta Borghi, Guillermo Pons-Estel, Guillermo Reales, Yu Zuo, Gerard Espinosa, Timothy Radstake, Lucas L van den Hoogen, Chris Wallace, Joel Guthridge, Judith A James, Ricard Cervera, Pier Luigi Meroni, Javier Martin, Jason S Knight, Marta E Alarcón-Riquelme, Amr H Sawalha
OBJECTIVES: Primary antiphospholipid syndrome (PAPS) is a rare autoimmune disease characterized by the presence of antiphospholipid antibodies and the occurrence of thrombotic events and pregnancy complications. Our study aimed to identify novel genetic susceptibility loci associated with PAPS. METHODS: We performed a genome-wide association study comprising 5,485 individuals (482 affected individuals) of European ancestry. Significant and suggestive independent variants from a meta-analysis of approximately 7 million variants were evaluated for functional and biological process enrichment...
December 5, 2023: medRxiv