Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson’s disease

• Published in: Proceedings of the National Academy of Sciences - PNAS Vol. 116; no. 31; pp. 15616 - 15624
• Main Authors: Fava, Vinicius M., Xu, Yong Zhong, Lettre, Guillaume, Van Thuc, Nguyen, Orlova, Marianna, Thai, Vu Hong, Tao, Shao, Croteau, Nathalie, Eldeeb, Mohamed A., MacDougall, Emma J., Cambri, Geison, Lahiri, Ramanuj, Adams, Linda, Fon, Edward A., Trempe, Jean-François, Cobat, Aurélie, Alcaïs, Alexandre, Abel, Laurent, Schurr, Erwin
• Format: Journal Article
• Language: English
• Published: United States National Academy of Sciences 30.07.2019
• Series: PNAS Plus
• Subjects: Amino acid sequence; Amino acids; Biological Sciences; Damage assessment; Enrichment; Female; Genes; Genetic control; Humans; Inflammation; Kernels; Leprosy; Leprosy - genetics; Leprosy - metabolism; Leprosy - pathology; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - genetics; Leucine-Rich Repeat Serine-Threonine Protein Kinase-2 - metabolism; LRRK2 protein; Male; Movement disorders; Mutation; Neural coding; Neurodegenerative diseases; Parkin protein; Parkinson Disease - genetics; Parkinson Disease - metabolism; Parkinson Disease - pathology; Parkinson's disease; Pathogenicity; Pathogens; Peripheral nerves; PNAS Plus; Test procedures; Ubiquitin-Protein Ligases - genetics; Ubiquitin-Protein Ligases - metabolism; leprosy type-1 reaction; inflammation; LRRK2; Parkinson’s disease; Parkin

Type-1 reactions (T1R) are pathological inflammatory episodes and main contributors to nerve damage in leprosy. Here, we evaluate the genewise enrichment of rare protein-altering variants in 7 genes where common variants were previously associated with T1R. We selected 474 Vietnamese leprosy patient...