Role of ATP10B in Parkinson disease in a cohort from southern Spain

• DOI: 10.1016/j.parkreldis.2024.106989
• Publication Date: 2024-05-01T03:39:42Z
• Authors: Rafael Díaz-Belloso; Laura Muñoz-Delgado; Miguel Martín-Bornez; Elena Ojeda; María Teresa Periñán; Sergio García-Díaz; Marta Bonilla-Tor...; Dolores Buiza-Rueda; Rocío Pineda-Sánchez; Silvia Jesús; Daniel Macías-García; Astrid Adarmes-Gómez; Fátima Carrillo; Pablo Mir; Pilar Gómez-Garre
• Keywords: Medical genetics

The ATP10B gene has been proposed to play an important role in the development of early-onset Parkinson's disease (PD). Nevertheless, various studies have presented controversial conclusions regarding the involvement of this gene in PD. Here, we screened 1162 patients with PD, employing a targeted resequencing approach to investigate the putative relevance of this gene in a large independent cohort of these patients from southern Spain. Variations were classified according to the American College of Medical Genetics and Genomics criteria. Association studies were performed using data of a representative healthy Spanish population from the Medical Genome Project. Frequent variants were excluded. A total of 68 variants (rare or very rare) were detected in our cohort. Among ATP10B variant carriers, 12.9 % were putative compound heterozygous carriers; of these, 25 % were patients with early-onset PD. No evidence of a relation between any rare variants of ATP10B and PD risk was observed. Therefore, our results do not support a role for ATP10B in the onset of PD, or in the risk of developing it.